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.Met246Ile
CA360097381
ENST00000503079.6:c.738G>A
CA360097384
ENST00000503079.6:c.738G>C
CA360097387
ENST00000503079.6:c.738G>T