Allele Registry

Canonical Allele Identifier: PA2829369148

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV001038552

RCV001197490

RCV002409378

ClinVar Variation:

837260

HGVS (amino-acid)	Matching Registered Transcripts
NP_002221.1:p.Arg602His	CA290695704 NM_002230.4:c.1805G>A