Allele Registry

Canonical Allele Identifier: PA2826577200

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000347234

RCV000517759

RCV000699474

RCV004021565

ClinVar Variation:

311536

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Gly1873Glu	CA6911144 NM_001278055.2:c.5618G>A