Allele Registry

Canonical Allele Identifier: PA2826576427

Gene: SACS HGNC NCBI

ClinVar Allele:

462941

ClinVar RCV:

RCV000545527

RCV001834757

RCV001848921

ClinVar Variation:

458259

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Val704Phe	CA6911670 NM_001278055.2:c.2110G>T