Allele Registry

Canonical Allele Identifier: PA2829708314

Gene: BRCA1 HGNC NCBI

ClinVar Allele:

46183

ClinVar RCV:

RCV000031208

RCV000048760

RCV000485950

RCV000574915

RCV002250478

ClinVar Variation:

37627

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Thr1712Lys	CA003188 NM_007300.4:c.5135C>A