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.Asp2174Glu	CA387521720 XM_011535038.1:c.6522T>G CA387521721 XM_011535038.1:c.6522T>A