Allele Registry

Canonical Allele Identifier: PA207203

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000193608

RCV000454342

RCV000475223

RCV000709972

RCV001358184

RCV001847872

ClinVar Variation:

212114

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Asn1489Ser	CA207202 NM_014363.6:c.4466A>G