Allele Registry

Canonical Allele Identifier: PA176412

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000150854

RCV001071020

RCV002453485

ClinVar Variation:

163726

HGVS (amino-acid)	Matching Registered Transcripts
NP_002221.1:p.Pro119Leu	CA176409 NM_002230.4:c.356C>T