Allele Registry

Canonical Allele Identifier: PA308470

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000321164

RCV000378103

RCV000541609

RCV000588554

RCV001175368

RCV002336467

RCV003416106

ClinVar Variation:

201812

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Ser170Leu	CA308466 NM_021991.4:c.509C>T