Canonical Allele Identifier: PA2827680188
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 201814
ClinVar RCV Id: RCV000183488 RCV000688743 RCV001193379 RCV002345643
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Val190Met
CA308476
NM_001352776.2:c.568G>A