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
ENSP00000428128.1:p.Ile210Leu
CA360096494
ENST00000503079.6:c.628A>C
CA360096498
ENST00000503079.6:c.628A>T