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
NP_055178.3:p.Thr2095Ser	CA387523495 NM_014363.6:c.6284C>G CA387523497 NM_014363.6:c.6283A>T