{"prefix":"exac.transcript","name":"ExAC Transcript","description":"The Exome Aggregation Consortium (ExAC) is a coalition of investigators seeking to aggregate and harmonize exome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. The data pertains to unrelated individuals sequenced as part of various disease-specific and population genetic studies and serves as a reference set of allele frequencies for severe disease studies. This collection references transcript information.","pattern":"^ENST\\d{11}$","uri_format":"http://exac.broadinstitute.org/transcript/$1","providers":[],"homepage":"http://exac.broadinstitute.org/","example":"ENST00000407236","example_extras":[],"deprecated":false,"mappings":{"biocontext":"EXAC.TRANSCRIPT","miriam":"exac.transcript","n2t":"exac.transcript"},"synonyms":[],"keywords":[],"publications":[],"appears_in":[],"depends_on":[],"namespace_in_lui":false,"preferred_prefix":"exac.transcript"}