Canonical Allele Identifier: PA2827679180
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 487584
ClinVar RCV Id: RCV000656146 RCV001365390 RCV001591344
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339704.1:p.Arg84Gln
CA8565539
NM_001352775.2:c.251G>A