Allele Registry

Canonical Allele Identifier: PA2826578866

Gene: SACS HGNC NCBI

ClinVar Allele:

494100

ClinVar RCV:

RCV000593745

RCV000671806

RCV002232237

RCV002532677

ClinVar Variation:

502677

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Glu4196Lys	CA6910035 NM_001278055.2:c.12586G>A