Allele Registry

Canonical Allele Identifier: PA239319

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000173863

RCV001080295

RCV001277261

ClinVar Variation:

193712

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Asn1025Ile	CA239318 NM_014363.6:c.3074A>T