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.Phe4121Leu	CA387506878 NM_001278055.2:c.12363C>G CA387506879 NM_001278055.2:c.12363C>A CA387506885 NM_001278055.2:c.12361T>C