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.Leu2813Phe	CA387515664 NM_001278055.2:c.8439A>T CA387515665 NM_001278055.2:c.8439A>C