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
ENSP00000507173.1:p.Glu1212Asp	CA387534368 ENST00000682944.1:c.3636A>C CA387534370 ENST00000682944.1:c.3636A>T