Allele Registry

Canonical Allele Identifier: PA2827678880

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000039069

RCV002513522

ClinVar Variation:

45840

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339703.1:p.Arg572Leu	CA137156 NM_001352774.2:c.1715G>T