Allele Registry

Canonical Allele Identifier: PA2827677867

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000039062

RCV000533569

RCV003162344

ClinVar Variation:

45833

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339702.1:p.Arg444His	CA137129 NM_001352773.2:c.1331G>A