Allele Registry

Canonical Allele Identifier: PA2826577918

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000516989

RCV001829476

RCV002525076

ClinVar Variation:

448228

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Leu2911Arg	CA6910654 NM_001278055.2:c.8732T>G