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
ENSP00000507173.1:p.Leu1001Phe	CA387537070 ENST00000682944.1:c.3003A>T CA387537071 ENST00000682944.1:c.3003A>C