Allele Registry

Canonical Allele Identifier: PA2827680282

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV001963837

RCV003014230

ClinVar Variation:

1465900

2100091

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339705.1:p.Gly269Arg	CA399501147 NM_001352776.2:c.805G>A CA399501150 NM_001352776.2:c.805G>C