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: SGSH HGNC NCBI

HGVS (amino-acid)	Transcript change
NP_001339850.1:p.Phe225Leu	NM_001352921.3:c.673T>C NM_001352921.3:c.675C>A NM_001352921.3:c.675C>G