Allele Registry

Canonical Allele Identifier: PA645437278

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000224523

RCV000290021

RCV001084237

RCV001112284

RCV001847949

ClinVar Variation:

235380

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ala1373Val	CA6911430 NM_014363.6:c.4118C>T