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_011541900.1:p.Tyr178del
CA360097331
XM_011543598.1:c.531T>A
CA360097332
XM_011543598.1:c.531T>G
CA360097362
XM_011543598.1:c.534T>A
CA360097365
XM_011543598.1:c.534T>G