Allele Registry

Canonical Allele Identifier: PA2826577048

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000863078

RCV001080973

RCV001115156

RCV001849165

RCV003955596

ClinVar Variation:

696629

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Cys1674Arg	CA6911247 NM_001278055.2:c.5020T>C