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
ENSP00000371729.3:p.Gln4226His	CA387507173 ENST00000382292.9:c.12678G>T CA387507175 ENST00000382292.9:c.12678G>C