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      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NM_001204425.1:c.4240G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191354.1:p.Glu1414Ter",
        "hgvsWellDefined": "NP_001191354.1:p.Glu1414_Thr1640delinsPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysArgLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysArgLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573061362",
      "coordinates": [
        {
          "allele": "T",
          "end": 3113,
          "referenceAllele": "G",
          "start": 3112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003437",
      "geneNCBI_id": 2073,
      "geneSymbol": "ERCC5",
      "hgvs": [
        "NM_000123.4:c.2878G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000114.3:p.Glu960Ter",
        "hgvsWellDefined": "NP_000114.3:p.Glu960_Thr1186delinsPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysGlyLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysGlyLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674712",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652225.2:c.2878G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000123.4:c.2878G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498881.2:p.Glu960Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000114.3:p.Glu960Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826273359",
      "coordinates": [
        {
          "allele": "T",
          "end": 4362,
          "referenceAllele": "G",
          "start": 4361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN043690",
      "geneNCBI_id": 100533467,
      "geneSymbol": "BIVM-ERCC5",
      "hgvs": [
        "NM_001204425.2:c.4240G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001191354.2:p.Glu1414Ter",
        "hgvsWellDefined": "NP_001191354.2:p.Glu1414_Thr1640delinsPheCysGlnArgTyrPheGlyTrpAsnArgThrLysThrAspGluSerLeuPheProValLeuLysGlnLeuAspAlaGlnGlnThrGlnLeuArgIleAspSerPhePheArgLeuAlaGlnGlnGluLysGluAspAlaLysArgIleLysSerGlnArgLeuAsnArgAlaValThrCysMetLeuArgLysGluLysGluAlaAlaAlaSerGluIleGluAlaValSerValAlaMetGluLysGluPheGluLeuLeuAspLysAlaLysGlyLysThrGlnLysArgGlyIleThrAsnThrLeuGluGluSerSerSerLeuLysArgLysArgLeuSerAspSerLysGlyLysAsnThrCysGlyGlyPheLeuGlyGluThrCysLeuSerGluSerSerAspGlySerSerSerGluAspAlaGluSerSerSerLeuMetAsnValGlnArgArgThrAlaAlaLysGluProLysThrSerAlaSerAspSerGlnAsnSerValLysGluAlaProValLysAsnGlyGlyAlaThrThrSerSerSerSerAspSerAspAspAspGlyGlyLysGluLysMetValLeuValThrAlaArgSerValPheGlyLysLysArgArgLysLeuArgArgAlaArgGlyArgLysArgLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679846"
    }
  ],
  "type": "nucleotide"
}