Canonical Allele Identifier: PA2827681030
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 178044
ClinVar RCV Id: RCV000154729 RCV000621366 RCV000702831 RCV002243826
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339706.1:p.Arg177Gln
CA181274
NM_001352777.2:c.530G>A