Allele Registry

Canonical Allele Identifier: PA2827680274

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000194635

RCV001853126

RCV002415828

ClinVar Variation:

212751

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339705.1:p.Arg265His	CA208935 NM_001352776.2:c.794G>A