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.Thr4553Ser	CA387504767 ENST00000382292.9:c.13658C>G CA387504769 ENST00000382292.9:c.13657A>T