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
ENSP00000506739.1:p.Glu432Asp	CA387549190 ENST00000683210.1:c.1296A>T CA387549193 ENST00000683210.1:c.1296A>C