Allele Registry

Canonical Allele Identifier: PA2826576524

Gene: SACS HGNC NCBI

ClinVar Allele:

441622

ClinVar RCV:

RCV000516574

RCV001081341

RCV001109615

RCV001644611

RCV001848892

RCV003905307

ClinVar Variation:

448199

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Arg829Ser	CA6911590 NM_001278055.2:c.2485C>A