Canonical Allele Identifier: PA2827678842
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 571627
ClinVar RCV Id: RCV000692822 RCV001771959 RCV003380681
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339703.1:p.Arg540Cys
CA8565182
NM_001352774.2:c.1618C>T