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: PA2499292636

Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1021099

ClinVar RCV Id: RCV001320795 RCV002456434

ClinVar Variation Id: 1732759

ClinVar RCV Id: RCV002454969

ClinVar Variation Id: 2067594

ClinVar RCV Id: RCV002954034

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_114432.2:p.Cys1190Ser	CA400478222 NM_032043.3:c.3569G>C CA400478226 NM_032043.3:c.3568T>A CA2580094550 NM_032043.3:c.3569_3570delinsCT