Allele Registry

Canonical Allele Identifier: PA658807524

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000618552

RCV000645202

RCV001584431

ClinVar Variation:

518649

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Asp727Asn	CA399490403 NM_021991.4:c.2179G>A