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.Ser238Arg
CA360097167
XM_017009786.1:c.712A>C
CA360097189
XM_017009786.1:c.714T>A
CA360097190
XM_017009786.1:c.714T>G