Canonical Allele Identifier: PA2827678888
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 468747
ClinVar RCV Id: RCV000545274 RCV000618150 RCV001532951
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339703.1:p.Arg577Cys
CA8565143
NM_001352774.2:c.1729C>T