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.His2122Gln	CA387523424 XM_011535038.1:c.6366T>G CA387523425 XM_011535038.1:c.6366T>A