Allele Registry

Canonical Allele Identifier: PA2827678470

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000234226

RCV000780357

RCV001124846

RCV001124847

RCV002354649

ClinVar Variation:

239107

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339703.1:p.Arg203Cys	CA8565432 NM_001352774.2:c.607C>T