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      ],
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      ],
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519561"
    },
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      ],
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      ],
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      ],
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      },
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      ],
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      ],
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        {
          "allele": "A",
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      ],
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519567"
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    {
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        {
          "allele": "A",
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          "start": 2603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "hgvs": [
        "NM_001350685.1:c.1905T>A"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519568"
    },
    {
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      "coordinates": [
        {
          "allele": "A",
          "end": 2813,
          "referenceAllele": "T",
          "start": 2812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001337615.1:p.Tyr635_Ser736delinsGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827564489",
      "coordinates": [
        {
          "allele": "A",
          "end": 2355,
          "referenceAllele": "T",
          "start": 2354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_001350687.1:c.1905T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337616.1:p.Tyr635Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827564777",
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        {
          "allele": "A",
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          "start": 2450
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      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519571"
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    {
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        {
          "allele": "A",
          "end": 2582,
          "referenceAllele": "T",
          "start": 2581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "proteinEffect": {
        "hgvs": "NP_001337618.1:p.Tyr635Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565353",
      "coordinates": [
        {
          "allele": "A",
          "end": 2488,
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      ],
      "gene": "http://reg.genome.network/gene/GN001573",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001337619.1:p.Tyr635Ter",
        "hgvsWellDefined": "NP_001337619.1:p.Tyr635_Ser736delinsGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827565641",
      "coordinates": [
        {
          "allele": "A",
          "end": 2543,
          "referenceAllele": "T",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001337620.1:p.Tyr635Ter",
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      "proteinEffect": {
        "hgvs": "XP_024302752.1:p.Tyr356Ter",
        "hgvsWellDefined": "XP_024302752.1:p.Tyr356_Ser457delinsGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830425748",
      "coordinates": [
        {
          "allele": "A",
          "end": 2450,
          "referenceAllele": "T",
          "start": 2449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.3:c.1905T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Tyr635Ter",
        "hgvsWellDefined": "NP_919436.1:p.Tyr635_Ser736delinsGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394505.7:c.1905T>A"
          },
          "RefSeq": {
            "hgvs": "NM_194454.3:c.1905T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378013.2:p.Tyr635Ter"
          },
          "RefSeq": {
            "hgvs": "NP_919436.1:p.Tyr635Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}