Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2580470670

Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1749071

ClinVar RCV Id: RCV002347471

ClinVar Variation Id: 2945657

ClinVar RCV Id: RCV003803751 RCV004366645

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_114432.2:p.Gly190Arg	CA400483072 NM_032043.3:c.568G>C CA400483076 NM_032043.3:c.568G>A