Allele Registry

Canonical Allele Identifier: PA094503

Gene: SACS HGNC NCBI

ClinVar Allele:

494100

ClinVar RCV:

RCV000593745

RCV000671806

RCV002232237

RCV002532677

ClinVar Variation:

502677

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Glu4343Lys	CA6910035 NM_014363.6:c.13027G>A