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
NP_000335.1:p.Val125Leu
CA360094159
NM_000344.4:c.373G>C
CA360094163
NM_000344.4:c.373G>T