Allele Registry

Canonical Allele Identifier: PA195502

Gene: BRCA1 HGNC NCBI

ClinVar Allele:

69001

ClinVar RCV:

RCV000166298

RCV000167785

RCV000656786

RCV000662632

RCV002483062

ClinVar Variation:

54334

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Glu575Lys	CA001127 NM_007294.4:c.1723G>A