Allele Registry

Canonical Allele Identifier: PA2827678229

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000156554

RCV000253975

RCV000315534

RCV000393399

RCV000656851

RCV000692565

RCV001375636

ClinVar Variation:

179756

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339703.1:p.Thr19Ile	CA185075 NM_001352774.2:c.56C>T