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      "referenceSequence": "http://reg.genome.network/refseq/RS519571"
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        "XM_017012758.2:c.1163T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868247.1:p.Leu388Ter",
        "hgvsWellDefined": "XP_016868247.1:p.Leu388_Ser498delinsGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566274"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2462,
          "referenceAllele": "T",
          "start": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446982.1:c.1877T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302750.1:p.Leu626Ter",
        "hgvsWellDefined": "XP_024302750.1:p.Leu626_Ser736delinsGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2211,
          "referenceAllele": "T",
          "start": 2210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446983.1:c.1877T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302751.1:p.Leu626Ter",
        "hgvsWellDefined": "XP_024302751.1:p.Leu626_Ser736delinsGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580611"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3393,
          "referenceAllele": "T",
          "start": 3392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "XM_024446984.1:c.1040T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302752.1:p.Leu347Ter",
        "hgvsWellDefined": "XP_024302752.1:p.Leu347_Ser457delinsGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830425675",
      "coordinates": [
        {
          "allele": "A",
          "end": 2422,
          "referenceAllele": "T",
          "start": 2421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NM_194454.3:c.1877T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_919436.1:p.Leu626Ter",
        "hgvsWellDefined": "NP_919436.1:p.Leu626_Ser736delinsGlnAsnCysTrpGluIleProThrTyrGlyAlaAlaPhePheThrGlyGlnIlePheThrLysAlaSerProSerAsnHisLysValIleProValTyrValGlyValAsnIleLysGlyLeuHisLeuLeuAsnMetGluThrLysAlaLeuLeuIleSerLeuLysTyrGlyCysPheMetTrpGlnLeuGlyAspThrAspThrCysPheGlnIleHisSerMetGluAsnLysMetSerPheIleValHisThrLysGlnAlaGlyLeuValValLysLeuLeuMetLysLeuAsnGlyGlnLeuMetProThrGluArgAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701223",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000394505.7:c.1877T>A"
          },
          "RefSeq": {
            "hgvs": "NM_194454.3:c.1877T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000378013.2:p.Leu626Ter"
          },
          "RefSeq": {
            "hgvs": "NP_919436.1:p.Leu626Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}