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
ENSP00000508399.1:p.Asp386Glu	CA387550022 ENST00000682775.1:c.1158T>G CA387550024 ENST00000682775.1:c.1158T>A