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.Phe4553Leu	CA387504828 ENST00000682944.1:c.13659T>G CA387504829 ENST00000682944.1:c.13659T>A CA387504834 ENST00000682944.1:c.13657T>C