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
ENSP00000424926.1:p.Asp105Glu
CA360093793
ENST00000506163.5:c.315C>A
CA360093795
ENST00000506163.5:c.315C>G