Allele Registry

Canonical Allele Identifier: PA327962

Gene: BRCA1 HGNC NCBI

MaveDb:

Score -2.0732240044

Score -1.4798704177

Score -2.049631434

ClinVar Allele:

70040

ClinVar RCV:

RCV000577017

RCV001077998

RCV002257395

ClinVar Variation:

55373

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Thr1691Arg	CA003189 NM_007294.4:c.5072C>G