Allele Registry

Canonical Allele Identifier: PA308474

Gene: JUP HGNC NCBI

ClinVar Allele:

198502

ClinVar RCV:

RCV000183487

RCV001050476

RCV002345642

RCV003955111

ClinVar Variation:

201813

HGVS (amino-acid)	Matching Registered Transcripts
NP_002221.1:p.Arg177Trp	CA308471 NM_002230.4:c.529C>T