Canonical Allele Identifier: PA2829369109
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 2933113
ClinVar RCV Id: RCV003790231

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002221.1:p.Leu588Val
CA399492786
NM_002230.4:c.1762C>G