Allele Registry

Canonical Allele Identifier: PA916008697

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000173863

RCV001080295

RCV001277261

ClinVar Variation:

193712

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Asn878Ile	CA239318 NM_001278055.2:c.2633A>T