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: PA093961

Gene: BRAF HGNC NCBI

Linked Data

ClinVar Variation Id: 177672

ClinVar RCV Id: RCV000154266 RCV000157825 RCV000445270 RCV000426478 RCV000522002

ClinVar Variation Id: 180789

ClinVar RCV Id: RCV000157824 RCV000437147 RCV001212304

ClinVar Variation Id: 202193

ClinVar RCV Id: RCV000184039 RCV000414439 RCV000427091 RCV002222430 RCV002291588 RCV002516942

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004324.2:p.Phe595Leu	CA280058 NM_004333.6:c.1785T>G CA280071 NM_004333.6:c.1783T>C CA295915 NM_004333.6:c.1785T>A