Allele Registry

Canonical Allele Identifier: PA2829369197

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV000262154

RCV000355139

RCV001046526

RCV001764292

RCV002282119

RCV002411219

ClinVar Variation:

323165

HGVS (amino-acid)	Matching Registered Transcripts
NP_002221.1:p.Asn638His	CA8565090 NM_002230.4:c.1912A>C