Allele Registry

Canonical Allele Identifier: PA2826578196

Gene: SACS HGNC NCBI

ClinVar Allele:

270758

ClinVar RCV:

RCV000327882

RCV000329092

RCV001082514

RCV003967757

ClinVar Variation:

286521

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Lys3278Arg	CA6910476 NM_001278055.2:c.9833A>G