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
ENSP00000507780.1:p.Leu569Phe	CA387547045 ENST00000683367.1:c.1707G>C CA387547049 ENST00000683367.1:c.1707G>T