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
ENSP00000507624.1:p.His1082Gln	CA387536238 ENST00000683270.1:c.3246C>G CA387536239 ENST00000683270.1:c.3246C>A