Allele Registry

Canonical Allele Identifier: PA645437633

Gene: SACS HGNC NCBI

ClinVar Allele:

270758

ClinVar RCV:

RCV000327882

RCV000329092

RCV001082514

RCV003967757

ClinVar Variation:

286521

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Lys3425Arg	CA6910476 NM_014363.6:c.10274A>G