@prefix bioregistry: <https://bioregistry.io/registry/> .
@prefix bioregistry.metaresource: <https://bioregistry.io/metaregistry/> .
@prefix bioregistry.schema: <https://bioregistry.io/schema/#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix doap: <http://usefulinc.com/ns/doap#> .
@prefix foaf: <http://xmlns.com/foaf/0.1/> .
@prefix oid: <https://oid-base.com/get/> .
@prefix orcid: <https://orcid.org/> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix skos: <http://www.w3.org/2004/02/skos/core#> .
@prefix wikidata: <http://www.wikidata.org/entity/> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

bioregistry.metaresource:bioregistry dcterms:hasPart bioregistry:hgvs .

bioregistry.metaresource:hl7 dcterms:hasPart oid:2.16.840.1.113883.6.282 .

bioregistry.metaresource:wikidata dcterms:hasPart wikidata:P3331 .

bioregistry:hgvs a bioregistry.schema:0000001 ;
    rdfs:label "Human Genome Variation Society Nomenclature" ;
    dcterms:contributor orcid:0000-0002-0548-891X ;
    dcterms:description "The HGVS Nomenclature is an internationally-recognized standard for the description of DNA, RNA and protein sequence variants. It is used to convey variants in clinical reports and to share variants in publications and databases. The HGVS Nomenclature is administered by the [HGVS Variant Nomenclature Committee (HVNC)](https://hgvs-nomenclature.org/stable/hvnc/) under the auspices of the [Human Genome Organization (HUGO)](https://hugo-int.org/)."^^xsd:string ;
    dcterms:isPartOf bioregistry.metaresource:bioregistry ;
    doap:GitRepository <https://github.com/HGVSnomenclature/hgvs-nomenclature> ;
    skos:exactMatch wikidata:P3331,
        oid:2.16.840.1.113883.6.282 ;
    foaf:homepage <https://hgvs-nomenclature.org/stable/background/simple/> ;
    bioregistry.schema:0000005 "NP_003997.1:p.Trp24Cys"^^xsd:string ;
    bioregistry.schema:0000006 "http://reg.clinicalgenome.org/allele?hgvs=$1"^^xsd:string ;
    bioregistry.schema:0000012 false ;
    bioregistry.schema:0000019 orcid:0000-0003-3463-0775 ;
    bioregistry.schema:0000021 orcid:0000-0003-4423-4370 ;
    bioregistry.schema:0000024 "http://reg.clinicalgenome.org/allele?hgvs="^^xsd:string ;
    bioregistry.schema:0000027 <http://reg.clinicalgenome.org/allele?hgvs=NP_003997.1:p.Trp24Cys> ;
    bioregistry.schema:0000029 "hgvs" .

orcid:0000-0002-0548-891X rdfs:label "Madeline Iseminger" ;
    foaf:mbox "miseming@sfu.ca" .

orcid:0000-0003-3463-0775 rdfs:label "Reece Hart" ;
    foaf:mbox "reecehart@gmail.com" .

orcid:0000-0003-4423-4370 rdfs:label "Charles Tapley Hoyt" ;
    foaf:mbox "cthoyt@gmail.com" .

wikidata:P3331 dcterms:isPartOf bioregistry.metaresource:wikidata .

oid:2.16.840.1.113883.6.282 dcterms:isPartOf bioregistry.metaresource:hl7 .