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.Met250Ile
CA003952
ENST00000493795.5:c.750G>A
CA10600293
ENST00000493795.5:c.750G>T
CA10600294
ENST00000493795.5:c.750G>C