Canonical Allele Identifier: PA2827679387
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1339287
ClinVar RCV Id: RCV001823811 RCV002542746
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Thr249Pro
CA399501566
NM_001352775.2:c.745A>C