Canonical Allele Identifier: PA2827680707
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 45842
ClinVar RCV Id: RCV000039072 RCV000248914 RCV000514183 RCV001123568 RCV001123569 RCV000769487 RCV000852718 RCV001081355
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Val648Ile
CA137167
NM_001352776.2:c.1942G>A