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: PA1139680977

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 630959

ClinVar RCV Id: RCV000776985 RCV001070433

ClinVar Variation Id: 948419

ClinVar RCV Id: RCV001219672

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Phe2560Leu	CA387745107 NM_000059.4:c.7678T>C CA387745119 NM_000059.4:c.7680T>A CA387745120 NM_000059.4:c.7680T>G