Allele Registry

Canonical Allele Identifier: PA658664533

Gene: SACS HGNC NCBI

ClinVar Allele:

441623

ClinVar RCV:

RCV000518481

RCV000820462

RCV001111916

RCV001848891

RCV002525072

ClinVar Variation:

448198

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ile868Val	CA6911659 NM_014363.6:c.2602A>G