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_075012.1:p.Cys218Ser
CA360096671
NM_022874.2:c.652T>A
CA360096684
NM_022874.2:c.653G>C