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.

Prefix

exac.variant

Links

Homepage

Contact

Missing Contact

Pattern for Local Unique Identifiers

Local identifiers in ExAC Variant should match this regular expression:
^\d{1,2}\-\d+\-[GATC]\-[GATC]$

Example Local Unique Identifier

22-46615880-T-C   Resolve

Pattern for CURIES

Compact URIs (CURIEs) constructed from ExAC Variant should match this regular expression:
^exac\.variant:\d{1,2}\-\d+\-[GATC]\-[GATC]$

Example CURIE

exac.variant:22-46615880-T-C

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.

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 22-46615880-T-C is used to demonstrate the providers available for ExAC Variant. A guide for curating additional providers can be found here.