Allele Registry

Canonical Allele Identifier: PA2827678354

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000171964

RCV000678710

RCV000705755

RCV002453594

ClinVar Variation:

191676

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339703.1:p.Glu118Lys	CA237235 NM_001352774.2:c.352G>A