Allele Registry

Canonical Allele Identifier: PA2499288634

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV001319249

RCV003166849

ClinVar Variation:

1019764

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Arg233His	CA399502235 NM_021991.4:c.698G>A