Canonical Allele Identifier: PA2827681049
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 222660
ClinVar RCV Id: RCV000208478 RCV000587635 RCV001089102 RCV002345750 RCV003897457
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339706.1:p.Ala187Val
CA354027
NM_001352777.2:c.560C>T