Allele Registry

Canonical Allele Identifier: PA645437620

Gene: SACS HGNC NCBI

ClinVar Allele:

399119

ClinVar RCV:

RCV000463355

RCV000712993

RCV001782958

RCV001848816

ClinVar Variation:

411687

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Leu3135Ser	CA6910624 NM_014363.6:c.9404T>C