Allele Registry

Canonical Allele Identifier: PA2829369320

Gene: JUP HGNC NCBI

ClinVar RCV:

RCV001970604

RCV002425342

RCV003893030

ClinVar Variation:

1468213

HGVS (amino-acid)	Matching Registered Transcripts
NP_002221.1:p.Ser730Gly	CA290694718 NM_002230.4:c.2188A>G