Allele Registry

Canonical Allele Identifier: PA2826577735

Gene: SACS HGNC NCBI

ClinVar Allele:

241624

ClinVar RCV:

RCV000341299

RCV000676358

RCV001083821

RCV001847977

RCV002222460

RCV003929987

ClinVar Variation:

240902

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Phe2633Cys	CA6910780 NM_001278055.2:c.7898T>G