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_011533340.1:p.Leu3514Phe	CA387512093 XM_011535038.1:c.10542G>T CA387512094 XM_011535038.1:c.10542G>C