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: PA658724571

Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 489835

ClinVar RCV Id: RCV000580510

ClinVar Variation Id: 2664917

ClinVar RCV Id: RCV003447891 RCV003482170 RCV003778495

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_114432.2:p.Ile1176_Lys1177insPhe	CA658684146 NM_032043.3:c.3528delinsCTTT CA2639153815 NM_032043.3:c.3528_3529insTTT