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: SMN1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000370083.4:p.Met278Leu	CA360097368 ENST00000380707.9:c.832A>C CA360097374 ENST00000380707.9:c.832A>T