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
ENSP00000370083.4:p.Gly95Arg
CA254690
ENST00000380707.9:c.283G>C
CA360093339
ENST00000380707.9:c.283G>A