Allele Registry

Canonical Allele Identifier: PA2827681642

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000183478

RCV000767068

RCV001327335

RCV002415781

ClinVar Variation:

201805

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339706.1:p.Asp708Asn	CA308431 NM_001352777.2:c.2122G>A