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      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.5:c.449C>T"
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        "hgvs": "NP_003978.3:p.Thr150Met",
        "hgvsWellDefined": "NP_003978.3:p.Thr150Met"
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      "referenceSequence": "http://reg.genome.network/refseq/RS696006"
    },
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      "@id": "http://reg.genome.network/allele/PA2829479811",
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
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      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.5:c.449C>T"
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      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Thr150Met",
        "hgvsWellDefined": "NP_003979.2:p.Thr150Met"
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      "referenceSequence": "http://reg.genome.network/refseq/RS696007"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480221",
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.5:c.449C>T"
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      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Thr150Met",
        "hgvsWellDefined": "NP_003980.3:p.Thr150Met"
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      "referenceSequence": "http://reg.genome.network/refseq/RS696008"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829480486",
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
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        "hgvsWellDefined": "NP_003981.3:p.Thr150Met"
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      "referenceSequence": "http://reg.genome.network/refseq/RS696009"
    }
  ],
  "type": "nucleotide"
}