Allele Registry

Canonical Allele Identifier: PA2827679319

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000183488

RCV000688743

RCV001193379

RCV002345643

ClinVar Variation:

201814

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Val190Met	CA308476 NM_001352775.2:c.568G>A