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
XP_016876028.1:p.Ile4224Leu	CA387507167 XM_017020539.1:c.12670A>T CA387507170 XM_017020539.1:c.12670A>C