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
ENSP00000508262.1:p.Asp578Glu	CA387546853 ENST00000684163.1:c.1734T>G CA387546858 ENST00000684163.1:c.1734T>A