Allele Registry

Canonical Allele Identifier: PA2827679312

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000208478

RCV000587635

RCV001089102

RCV002345750

RCV003897457

ClinVar Variation:

222660

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Ala187Val	CA354027 NM_001352775.2:c.560C>T