Allele Registry

Canonical Allele Identifier: PA645437504

Gene: SACS HGNC NCBI

ClinVar Allele:

335699

ClinVar RCV:

RCV000371368

RCV000712986

RCV001247269

RCV001642968

RCV001848099

RCV002520865

ClinVar Variation:

311528

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ala2318Thr	CA6910993 NM_014363.6:c.6952G>A