Allele Registry

Canonical Allele Identifier: PA176378

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000150847

RCV000208373

RCV000227308

RCV001125575

RCV001125576

RCV002221461

RCV002415637

RCV003149917

ClinVar Variation:

163710

HGVS (amino-acid)	Matching Registered Transcripts
NP_068831.1:p.Asn690Ser	CA176374 NM_021991.4:c.2069A>G