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.His2482Gln	CA387519073 XM_017020539.1:c.7446T>G CA387519074 XM_017020539.1:c.7446T>A