Allele Registry

Canonical Allele Identifier: PA346375

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000157252

RCV002408706

RCV002492607

ClinVar Variation:

180377

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Ala628Thr	CA346371 NM_021991.4:c.1882G>A