Allele Registry

Canonical Allele Identifier: PA354031

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000208478

RCV000587635

RCV001089102

RCV002345750

RCV003897457

ClinVar Variation:

222660

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Ala187Val	CA354027 NM_021991.4:c.560C>T