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      "coordinates": [
        {
          "allele": "T",
          "end": 3883,
          "referenceAllele": "C",
          "start": 3882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_000057.4:c.3784C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Gln1262Ter",
        "hgvsWellDefined": "NP_000048.1:p.Gln1262_Ser1417delinsIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.3784C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.3784C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Gln1262Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000048.1:p.Gln1262Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826738749",
      "coordinates": [
        {
          "allele": "T",
          "end": 3993,
          "referenceAllele": "C",
          "start": 3992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287246.2:c.3784C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Gln1262Ter",
        "hgvsWellDefined": "NP_001274175.1:p.Gln1262_Ser1417delinsIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826740017",
      "coordinates": [
        {
          "allele": "T",
          "end": 3490,
          "referenceAllele": "C",
          "start": 3489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287247.2:c.3391C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Gln1131Ter",
        "hgvsWellDefined": "NP_001274176.1:p.Gln1131_Ser1286delinsIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741856097",
      "coordinates": [
        {
          "allele": "T",
          "end": 4049,
          "referenceAllele": "C",
          "start": 4048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.2659C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Gln887Ter",
        "hgvsWellDefined": "NP_001274177.1:p.Gln887_Ser1042delinsIleAspGlyValThrGluAspLysLeuGluLysTyrGlyAlaGluValIleSerValLeuGlnLysTyrSerGluTrpThrSerProAlaGluAspSerSerProGlyIleSerLeuSerSerSerArgGlyProGlyArgSerAlaAlaGluGluLeuAspGluGluIleProValSerSerHisTyrPheAlaSerLysThrArgAsnGluArgLysArgLysLysMetProAlaSerGlnArgSerLysArgArgLysThrAlaSerSerGlySerLysAlaLysGlyGlySerAlaThrCysArgLysIleSerSerLysThrLysSerSerSerIleIleGlySerSerSerAlaSerHisThrSerGlnAlaThrSerGlyAlaAsnSerLysLeuGlyIleMetAlaProProLysProIleAsnArgProPheLeuLysProSerTyrAlaPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}