@prefix biocontext: .
@prefix bioregistry: .
@prefix bioregistry.metaresource: .
@prefix bioregistry.schema: .
@prefix dcterms: .
@prefix foaf: .
@prefix miriam: .
@prefix n2t: .
@prefix rdfs: .
@prefix skos: .
@prefix xsd: .
bioregistry.metaresource:biocontext dcterms:hasPart biocontext:EXAC.VARIANT .
bioregistry.metaresource:bioregistry dcterms:hasPart bioregistry:exac.variant .
bioregistry.metaresource:miriam dcterms:hasPart miriam:exac.variant .
bioregistry.metaresource:n2t dcterms:hasPart n2t:exac.variant .
bioregistry:exac.variant a bioregistry.schema:0000001 ;
rdfs:label "ExAC Variant" ;
dcterms: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 variant information."^^xsd:string ;
dcterms:isPartOf bioregistry.metaresource:bioregistry ;
skos:exactMatch biocontext:EXAC.VARIANT,
n2t:exac.variant,
miriam:exac.variant ;
foaf:homepage ;
bioregistry.schema:0000005 "22-46615880-T-C"^^xsd:string ;
bioregistry.schema:0000006 "http://exac.broadinstitute.org/variant/$1"^^xsd:string ;
bioregistry.schema:0000008 "^\\d{1,2}\\-\\d+\\-[GATC]\\-[GATC]$"^^xsd:string ;
bioregistry.schema:0000012 false ;
bioregistry.schema:0000024 "http://exac.broadinstitute.org/variant/"^^xsd:string ;
bioregistry.schema:0000027 ;
bioregistry.schema:0000029 "exac.variant" .
biocontext:EXAC.VARIANT dcterms:isPartOf bioregistry.metaresource:biocontext .
n2t:exac.variant dcterms:isPartOf bioregistry.metaresource:n2t .
miriam:exac.variant dcterms:isPartOf bioregistry.metaresource:miriam .