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          "end": 799,
          "referenceAllele": "GC",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_000278.5:c.119_120del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000269.3:p.Arg40HisfsTer13",
        "hgvsWellDefined": "NP_000269.3:p.[Arg40_Leu44delinsHisArgGly;His46_Gln47del;Val49_Arg50delinsPro;Cys52_His62del;Val65_Ile68delinsAlaAla;Gly70del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674773",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355243.8:c.119_120del"
          },
          "RefSeq": {
            "hgvs": "NM_000278.5:c.119_120del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347385.3:p.Arg40HisfsTer13"
          },
          "RefSeq": {
            "hgvs": "NP_000269.3:p.Arg40HisfsTer13"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "GC",
          "start": 524
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      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_001304569.2:c.212_213del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291498.1:p.Arg71HisfsTer13",
        "hgvsWellDefined": "NP_001291498.1:p.[Arg71_Leu75delinsHisArgGly;His77_Gln78del;Val80_Arg81delinsPro;Cys83_His93del;Val96_Ile99delinsAlaAla;Gly101del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683727"
    },
    {
      "coordinates": [
        {
          "allele": "",
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      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003987.5:c.119_120del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003978.3:p.Arg40HisfsTer13",
        "hgvsWellDefined": "NP_003978.3:p.[Arg40_Leu44delinsHisArgGly;His46_Gln47del;Val49_Arg50delinsPro;Cys52_His62del;Val65_Ile68delinsAlaAla;Gly70del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696006"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 799,
          "referenceAllele": "GC",
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      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003988.5:c.119_120del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003979.2:p.Arg40HisfsTer13",
        "hgvsWellDefined": "NP_003979.2:p.[Arg40_Leu44delinsHisArgGly;His46_Gln47del;Val49_Arg50delinsPro;Cys52_His62del;Val65_Ile68delinsAlaAla;Gly70del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696007"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 799,
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      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003989.5:c.119_120del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003980.3:p.Arg40HisfsTer13",
        "hgvsWellDefined": "NP_003980.3:p.[Arg40_Leu44delinsHisArgGly;His46_Gln47del;Val49_Arg50delinsPro;Cys52_His62del;Val65_Ile68delinsAlaAla;Gly70del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696008"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 799,
          "referenceAllele": "GC",
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      ],
      "gene": "http://reg.genome.network/gene/GN008616",
      "geneNCBI_id": 5076,
      "geneSymbol": "PAX2",
      "hgvs": [
        "NM_003990.5:c.119_120del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003981.3:p.Arg40HisfsTer13",
        "hgvsWellDefined": "NP_003981.3:p.[Arg40_Leu44delinsHisArgGly;His46_Gln47del;Val49_Arg50delinsPro;Cys52_His62del;Val65_Ile68delinsAlaAla;Gly70del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696009"
    }
  ],
  "type": "nucleotide"
}