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_005266395.1:p.Thr2028Ser	CA387523993 XM_005266338.2:c.6083C>G CA387523995 XM_005266338.2:c.6082A>T