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
XP_016865275.1:p.Met246Leu
CA360097368
XM_017009786.1:c.736A>C
CA360097374
XM_017009786.1:c.736A>T