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      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378235.1:c.263G>A"
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        "hgvsWellDefined": "NP_001365164.1:p.Gly88Asp"
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      "@id": "http://reg.genome.network/allele/PA2828750432",
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      "gene": "http://reg.genome.network/gene/GN012559",
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        "hgvsWellDefined": "NP_001365166.1:p.Gly88Asp"
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      "referenceSequence": "http://reg.genome.network/refseq/RS721588"
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      "@id": "http://reg.genome.network/allele/PA2573229360",
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      "gene": "http://reg.genome.network/gene/GN012559",
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      "hgvs": [
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        "hgvsWellDefined": "NP_003352.2:p.Gly88Asp"
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      "referenceSequence": "http://reg.genome.network/refseq/RS727377",
      "MANE": {
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        "maneStatus": "MANE Select",
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  "type": "nucleotide"
}