Allele Registry

Canonical Allele Identifier: PA645460173

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000457167

RCV001256954

RCV001764429

RCV002379466

ClinVar Variation:

409982

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Arg320His	CA8565329 NM_021991.4:c.959G>A