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.Asp2816Glu	CA387516673 ENST00000682944.1:c.8448T>G CA387516674 ENST00000682944.1:c.8448T>A