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.Gln154His
CA360094821
ENST00000503079.6:c.462A>C
CA360094828
ENST00000503079.6:c.462A>T