Canonical Allele Identifier: PA2827680343
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 409982
ClinVar RCV Id: RCV000457167 RCV001256954 RCV001764429 RCV002379466
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339705.1:p.Arg320His
CA8565329
NM_001352776.2:c.959G>A