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: PA2573058731

Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 631082

ClinVar RCV Id: RCV000777126 RCV001367116

ClinVar Variation Id: 1348794

ClinVar RCV Id: RCV002046610 RCV002307767 RCV003158983

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000050.3:p.Phe1127Leu	CA387776423 NM_000059.4:c.3379T>C CA387776428 NM_000059.4:c.3381T>A CA387776429 NM_000059.4:c.3381T>G