Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000489431.2:p.Ser1253Arg	CA10594200 ENST00000634433.2:c.3759C>G CA10594201 ENST00000634433.2:c.3759C>A CA10594207 ENST00000634433.2:c.3757A>C