Allele Registry

Canonical Allele Identifier: PA2827679371

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000645214

RCV001124844

RCV001124845

RCV003303043

ClinVar Variation:

536636

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Val232Ile	CA8565412 NM_001352775.2:c.694G>A