Allele Registry

Canonical Allele Identifier: PA2827680241

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV001319249

RCV003166849

ClinVar Variation:

1019764

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339705.1:p.Arg233His	CA399502235 NM_001352776.2:c.698G>A