Allele Registry

Canonical Allele Identifier: PA658664684

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000518073

RCV000560872

RCV001113533

ClinVar Variation:

448229

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Arg3184Cys	CA6910606 NM_014363.6:c.9550C>T