This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: BRCA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000418775.1:p.Met250Leu
CA003948
ENST00000493795.5:c.748A>C
CA10600297
ENST00000493795.5:c.748A>T