Allele Registry

Canonical Allele Identifier: PA645437483

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000347234

RCV000517759

RCV000699474

RCV004021565

ClinVar Variation:

311536

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Gly2020Glu	CA6911144 NM_014363.6:c.6059G>A