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
ENSP00000486539.1:p.Asp258Glu
CA360096887
ENST00000625245.2:c.774T>A
CA360096890
ENST00000625245.2:c.774T>G