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.Leu2942Phe	CA387515887 XM_011535038.1:c.8826G>C CA387515888 XM_011535038.1:c.8826G>T