Allele Registry

Canonical Allele Identifier: PA308544

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000645199

ClinVar Variation:

201826

HGVS (amino-acid)	Matching Registered Transcripts
NP_002221.1:p.His568Tyr	CA308541 NM_002230.4:c.1702C>T