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: SACS HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_016876028.1:p.Asp2640Glu	CA387517756 XM_017020539.1:c.7920C>G CA387517757 XM_017020539.1:c.7920C>A