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        "hgvsWellDefined": "XP_011524913.1:p.Trp526_Leu734delinsTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548334"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1599,
          "referenceAllele": "G",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XM_017026467.1:c.1533G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881956.1:p.Trp511Ter",
        "hgvsWellDefined": "XP_016881956.1:p.Trp511_Leu719delinsTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576612"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1703,
          "referenceAllele": "G",
          "start": 1702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753633.2:n.1703G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1639,
          "referenceAllele": "G",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "XR_001753634.2:n.1639G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS600117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741814618",
      "coordinates": [
        {
          "allele": "A",
          "end": 1689,
          "referenceAllele": "G",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003434",
      "geneNCBI_id": 2068,
      "geneSymbol": "ERCC2",
      "hgvs": [
        "NM_000400.4:c.1656G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000391.1:p.Trp552Ter",
        "hgvsWellDefined": "NP_000391.1:p.Trp552_Leu760delinsTyrGluGlnGlyIleLeuGluAsnIleGlnArgAsnLysLeuLeuPheIleGluThrGlnAspGlyAlaGluThrSerValAlaLeuGluLysTyrGlnGluAlaCysGluAsnGlyArgGlyAlaIleLeuLeuSerValAlaArgGlyLysValSerGluGlyIleAspPheValHisHisTyrGlyArgAlaValIleMetPheGlyValProTyrValTyrThrGlnSerArgIleLeuLysAlaArgLeuGluTyrLeuArgAspGlnPheGlnIleArgGluAsnAspPheLeuThrPheAspAlaMetArgHisAlaAlaGlnCysValGlyArgAlaIleArgGlyLysThrAspTyrGlyLeuMetValPheAlaAspLysArgPheAlaArgGlyAspLysArgGlyLysLeuProArgTrpIleGlnGluHisLeuThrAspAlaAsnLeuAsnLeuThrValAspGluGlyValGlnValAlaLysTyrPheLeuArgGlnMetAlaGlnProPheHisArgGluAspGlnLeuGlyLeuSerLeuLeuSerLeuGluGlnLeuGluSerGluGluThrLeuLysArgIleGluGlnIleAlaGlnGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674827",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000391945.10:c.1656G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000400.4:c.1656G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000375809.4:p.Trp552Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000391.1:p.Trp552Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}