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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000428128.1:p.Met246Leu
CA360097368
ENST00000503079.6:c.736A>C
CA360097374
ENST00000503079.6:c.736A>T