Allele Registry

Canonical Allele Identifier: PA2827679373

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV001319249

RCV003166849

ClinVar Variation:

1019764

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339704.1:p.Arg233His	CA399502235 NM_001352775.2:c.698G>A