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
ENSP00000430657.1:p.Glu17Asp
CA360094920
ENST00000507905.6:c.51G>C
CA360094922
ENST00000507905.6:c.51G>T