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.Lys2482Asn	CA387519116 NM_014363.6:c.7446A>T CA387519118 NM_014363.6:c.7446A>C