Canonical Allele Identifier: PA2827679406
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 212751
ClinVar RCV Id: RCV000194635 RCV001853126 RCV002415828
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Arg265His
CA208935
NM_001352775.2:c.794G>A