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
ENSP00000422679.2:p.Cys250Ser
CA360096671
ENST00000506239.6:c.748T>A
CA360096684
ENST00000506239.6:c.749G>C