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.Val2478Leu	CA387519136 XM_017020539.1:c.7432G>T CA387519137 XM_017020539.1:c.7432G>C