Canonical Allele Identifier: PA2827680565
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 201825
ClinVar RCV Id: RCV000183501 RCV000769488 RCV000767066 RCV001065041 RCV002399670
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Val528Ile
CA308536
NM_001352776.2:c.1582G>A