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 gene information.

Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in ExAC Gene should match this regular expression:

Example Local Unique Identifier
ENSG00000169174   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from ExAC Gene should match this regular expression:

Example CURIE
Metaregistry ExAC Gene

The metaregistry provides mappings between the Bioregistry and other registries. There are 3 mappings to external registries for this resource with 1 unique external prefixes.

Registry Name Registry Metaprefix External Prefix Curate
BioContext biocontext EXAC.GENE logo miriam exac.gene
N2T Name-to-Thing logo n2t exac.gene

A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).

The local unique identifier ENSG00000169174 is used to demonstrate the providers available for ExAC Gene. A guide for curating additional providers can be found here.

Name Metaprefix URI
ExAC Gene exac.gene
Bioregistry bioregistry miriam
Name-to-Thing n2t