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_001264984.1:p.Val2244Leu	CA387519883 NM_001278055.2:c.6730G>T CA387519884 NM_001278055.2:c.6730G>C