Allele Registry

Canonical Allele Identifier: PA308464

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000183485

RCV000471931

RCV000786327

RCV002326992

RCV003150061

ClinVar Variation:

201811

HGVS (amino-acid)	Matching Registered Transcripts
NP_002221.1:p.Ala143Thr	CA308461 NM_002230.4:c.427G>A