Allele Registry

Canonical Allele Identifier: PA2826577560

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000243536

RCV000710207

RCV001082626

RCV001112102

RCV001848029

RCV003891946

ClinVar Variation:

260399

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Ala2363Thr	CA6910891 NM_001278055.2:c.7087G>A