Allele Registry

Canonical Allele Identifier: PA2826577331

Gene: SACS HGNC NCBI

ClinVar Allele:

463491

ClinVar RCV:

RCV000538701

RCV000765122

RCV002528313

RCV003482278

ClinVar Variation:

458272

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Arg2067Cys	CA6911049 NM_001278055.2:c.6199C>T