Canonical Allele Identifier: PA2827678457
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 222661
ClinVar RCV Id: RCV000208130 RCV000468133 RCV000656166 RCV001536180 RCV002354587
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339703.1:p.Met193Thr
CA087549
NM_001352774.2:c.578T>C