Allele Registry

Canonical Allele Identifier: PA2827677740

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000457167

RCV001256954

RCV001764429

RCV002379466

ClinVar Variation:

409982

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339702.1:p.Arg320His	CA8565329 NM_001352773.2:c.959G>A