Allele Registry

OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH

Canonical Allele Identifier: PA2829707511

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55321

ClinVar RCV Id: RCV000048698 RCV000112427 RCV000167324 RCV000235133 RCV000656790

ClinVar Variation Id: 868858

ClinVar RCV Id: RCV001077844 RCV001260425 RCV003645192

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Arg1666Ser	CA003089 NM_007300.4:c.4998G>C CA10591655 NM_007300.4:c.4998G>T