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
ENSP00000423298.1:p.Thr207Ser
CA360097275
ENST00000514951.5:c.619A>T
CA360097282
ENST00000514951.5:c.620C>G