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: SMN1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_011541899.1:p.Asp191Glu	CA360096887 XM_011543597.1:c.573T>A CA360096890 XM_011543597.1:c.573T>G