Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
NP_001284644.1:p.Val125Leu	CA360094159 NM_001297715.1:c.373G>C CA360094163 NM_001297715.1:c.373G>T