Canonical Allele Identifier: PA2827679693
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1492213
ClinVar RCV Id: RCV001980782
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Arg526Ser
CA399493817
NM_001352775.2:c.1576C>A