Allele Registry

Canonical Allele Identifier: PA916014002

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000863078

RCV001080973

RCV001115156

RCV001849165

RCV003955596

ClinVar Variation:

696629

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Cys1821Arg	CA6911247 NM_014363.6:c.5461T>C