Allele Registry

Canonical Allele Identifier: PA658808499

Gene: SACS HGNC NCBI

ClinVar Allele:

497235

ClinVar RCV:

RCV000612398

RCV000824757

RCV001380372

RCV001591363

ClinVar Variation:

504884

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Arg272Cys	CA246678438 NM_014363.6:c.814C>T