Canonical Allele Identifier: PA2827679748
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 536633
ClinVar RCV Id: RCV000645210 RCV002397246
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Arg572Gln
CA8565145
NM_001352775.2:c.1715G>A