Allele Registry

Canonical Allele Identifier: PA2580354491

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV002585846

RCV003481317

ClinVar Variation:

1900710

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Cys1821Tyr	CA6911246 NM_014363.6:c.5462G>A