{"prefix":"hgvs","name":"Human Genome Variation Society Nomenclature","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/).","uri_format":"http://reg.clinicalgenome.org/allele?hgvs=$1","providers":[{"code":"mutalyzer","name":"LUMC Mutalyzer 3","description":" The Mutalyzer tool suite is designed to be of help when working with HGVS sequence variant nomenclature descriptions.","homepage":"https://mutalyzer.nl","uri_format":"https://mutalyzer.nl/api/description_to_model/$1"}],"homepage":"https://hgvs-nomenclature.org/stable/background/simple/","repository":"https://github.com/HGVSnomenclature/hgvs-nomenclature","contact":{"name":"Reece Hart","orcid":"0000-0003-3463-0775","email":"reecehart@gmail.com","github":"reece"},"example":"NP_003997.1:p.Trp24Cys","example_extras":["GRCh38(chr11):g.112088970del","NC_000011.10(NM_001276503.2):c.169+998del","NC_000011.10:g.112088970del","NG_012337.3(NM_003002.4):c.274G>T","NG_012337.3(NM_003002.4):r.(274g>u)"],"deprecated":false,"mappings":{"hl7":"2.16.840.1.113883.6.282","wikidata":"P3331"},"synonyms":[],"keywords":[],"references":["https://github.com/biopragmatics/bioregistry/issues/460"],"publications":[{"pubmed":"26931183","doi":"10.1002/humu.22981","title":"HGVS Recommendations for the Description of Sequence Variants: 2016 Update","year":2016},{"pubmed":"25273102","doi":"10.1093/bioinformatics/btu630","pmc":"PMC4287946","title":"A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature","year":2014}],"appears_in":[],"depends_on":[],"namespace_in_lui":false,"contributor":{"name":"Madeline Iseminger","orcid":"0000-0002-0548-891X","email":"miseming@sfu.ca","github":"miseminger"},"reviewer":{"name":"Charles Tapley Hoyt","orcid":"0000-0003-4423-4370","email":"cthoyt@gmail.com","github":"cthoyt"},"preferred_prefix":"hgvs","github_request_issue":1032}