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: PA2499227558

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1000548

ClinVar RCV Id: RCV001296693 RCV003158663

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Lys972Asn	CA387774201 NM_000059.4:c.2916A>C CA387774202 NM_000059.4:c.2916A>T