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          "allele": "T",
          "end": 1996,
          "referenceAllele": "C",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_000122.2:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000113.1:p.Arg645Ter",
        "hgvsWellDefined": "NP_000113.1:p.Arg645_Lys782delinsAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000285398.7:c.1933C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000122.2:c.1933C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000285398.2:p.Arg645Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000113.1:p.Arg645Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882559",
      "coordinates": [
        {
          "allele": "T",
          "end": 2193,
          "referenceAllele": "C",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303416.2:c.1741C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290345.1:p.Arg581Ter",
        "hgvsWellDefined": "NP_001290345.1:p.Arg581_Lys718delinsAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826882882",
      "coordinates": [
        {
          "allele": "T",
          "end": 2255,
          "referenceAllele": "C",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003435",
      "geneNCBI_id": 2071,
      "geneSymbol": "ERCC3",
      "hgvs": [
        "NM_001303418.2:c.1741C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290347.1:p.Arg581Ter",
        "hgvsWellDefined": "NP_001290347.1:p.Arg581_Lys718delinsAlaLysLysGlyMetValAlaGluGluTyrAsnAlaPhePheTyrSerLeuValSerGlnAspThrGlnGluMetAlaTyrSerThrLysArgGlnArgPheLeuValAspGlnGlyTyrSerPheLysValIleThrLysLeuAlaGlyMetGluGluGluAspLeuAlaPheSerThrLysGluGluGlnGlnGlnLeuLeuGlnLysValLeuAlaAlaThrAspLeuAspAlaGluGluGluValValAlaGlyGluPheGlySerArgSerSerGlnAlaSerArgArgPheGlyThrMetSerSerMetSerGlyAlaAspAspThrValTyrMetGluTyrHisSerSerArgSerLysAlaProSerLysHisValHisProLeuPheLysArgPheArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683584"
    }
  ],
  "type": "nucleotide"
}