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        {
          "allele": "G",
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          "referenceAllele": "C",
          "start": 404
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      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378235.1:c.276C>G"
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      "proteinEffect": {
        "hgvs": "NP_001365164.1:p.Cys92Trp",
        "hgvsWellDefined": "NP_001365164.1:p.Cys92Trp"
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      "referenceSequence": "http://reg.genome.network/refseq/RS721587"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828750436",
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "C",
          "start": 500
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      ],
      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_001378237.1:c.276C>G"
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      "proteinEffect": {
        "hgvs": "NP_001365166.1:p.Cys92Trp",
        "hgvsWellDefined": "NP_001365166.1:p.Cys92Trp"
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      "referenceSequence": "http://reg.genome.network/refseq/RS721588"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580291040",
      "coordinates": [
        {
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      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NM_003361.4:c.276C>G"
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      "proteinEffect": {
        "hgvs": "NP_003352.2:p.Cys92Trp",
        "hgvsWellDefined": "NP_003352.2:p.Cys92Trp"
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      "referenceSequence": "http://reg.genome.network/refseq/RS727377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396138.9:c.276C>G"
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          "RefSeq": {
            "hgvs": "NM_003361.4:c.276C>G"
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379442.5:p.Cys92Trp"
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          "RefSeq": {
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN012559",
      "geneNCBI_id": 7369,
      "geneSymbol": "UMOD",
      "hgvs": [
        "NR_165456.1:n.501C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS731721"
    }
  ],
  "type": "nucleotide"
}