Allele Registry

Canonical Allele Identifier: PA658664624

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000532956

RCV001834758

RCV004023781

ClinVar Variation:

458271

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ile2198Thr	CA6911056 NM_014363.6:c.6593T>C