Allele Registry

Canonical Allele Identifier: PA2826577808

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000530318

RCV001274928

RCV002525291

ClinVar Variation:

458276

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Arg2751His	CA6910731 NM_001278055.2:c.8252G>A