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.Ile4227Leu	CA387507167 ENST00000382292.9:c.12679A>T CA387507170 ENST00000382292.9:c.12679A>C