Allele Registry

Canonical Allele Identifier: PA308479

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000183488

RCV000688743

RCV001193379

RCV002345643

ClinVar Variation:

201814

HGVS (amino-acid)	Matching Registered Transcripts
NP_002221.1:p.Val190Met	CA308476 NM_002230.4:c.568G>A