Canonical Allele Identifier: PA2827679061
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 518649
ClinVar RCV Id: RCV000618552 RCV000645202 RCV001584431
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339703.1:p.Asp727Asn
CA399490403
NM_001352774.2:c.2179G>A