Allele Registry

Canonical Allele Identifier: PA181278

Gene: JUP HGNC NCBI

ClinVar Allele:

178216

ClinVar RCV:

RCV000154729

RCV000621366

RCV000702831

RCV002243826

ClinVar Variation:

178044

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Arg177Gln	CA181274 NM_021991.4:c.530G>A