Allele Registry

Canonical Allele Identifier: PA2827680489

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000489721

RCV000546052

RCV000621825

ClinVar Variation:

426584

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339705.1:p.Ala458Thr	CA8565223 NM_001352776.2:c.1372G>A