Allele Registry

Canonical Allele Identifier: PA2829708946

Gene: BRCA1 HGNC NCBI

ClinVar RCV:

RCV000480732

RCV001076132

ClinVar Variation:

418072

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Lys1748Gln	CA10591187 NM_007300.4:c.5242A>C