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.Ile242Leu
CA360096494
ENST00000506239.6:c.724A>C
CA360096498
ENST00000506239.6:c.724A>T