Allele Registry

Canonical Allele Identifier: PA2827678551

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000313301

RCV000370239

RCV001047550

RCV002426884

ClinVar Variation:

201831

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339703.1:p.Met273Thr	CA308566 NM_001352774.2:c.818T>C