Allele Registry

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: SMN2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_011541905.1:p.Thr175Ser	CA360086546 XM_011543603.3:c.523A>T CA360086548 XM_011543603.3:c.524C>G