Allele Registry

Canonical Allele Identifier: PA645460383

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000489721

RCV000546052

RCV000621825

ClinVar Variation:

426584

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Ala458Thr	CA8565223 NM_021991.4:c.1372G>A