Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2499227653

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1058845

ClinVar RCV Id: RCV001368026 RCV003158868

ClinVar Variation Id: 2105701

ClinVar RCV Id: RCV003042012 RCV003157880

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Val894Leu	CA387773420 NM_000059.4:c.2680G>C CA387773421 NM_000059.4:c.2680G>T