Canonical Allele Identifier: PA2827678282
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 1779975
ClinVar RCV Id: RCV002404074
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339703.1:p.Thr60_Thr62del
CA2576269043
NM_001352774.2:c.178_186del