Allele Registry

Canonical Allele Identifier: PA2827677556

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000171963

RCV000208296

RCV000244325

RCV000466475

RCV000499623

RCV001198755

ClinVar Variation:

191675

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339702.1:p.Arg176Trp	CA237230 NM_001352773.2:c.526C>T