Allele Registry

Canonical Allele Identifier: PA184166

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000156095

RCV001850147

RCV004019870

ClinVar Variation:

179306

HGVS (amino-acid)	Matching Registered Transcripts
NP_002221.1:p.Ala645Thr	CA184163 NM_002230.4:c.1933G>A