Allele Registry

Canonical Allele Identifier: PA2826577976

Gene: SACS HGNC NCBI

ClinVar Allele:

399119

ClinVar RCV:

RCV000463355

RCV000712993

RCV001782958

RCV001848816

ClinVar Variation:

411687

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Leu2988Ser	CA6910624 NM_001278055.2:c.8963T>C