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      "referenceSequence": "http://reg.genome.network/refseq/RS024105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA251927",
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003439",
      "geneNCBI_id": 1161,
      "geneSymbol": "ERCC8",
      "hgvs": [
        "NM_000082.4:c.966C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000073.1:p.Tyr322Ter",
        "hgvsWellDefined": "NP_000073.1:p.Tyr322_Gly396delinsSerGlyGluGlnIleThrMetLeuLysGlyHisTyrLysThrValAspCysCysValPheGlnSerAsnPheGlnGluLeuTyrSerGlySerArgAspCysAsnIleLeuAlaTrpValProSerLeuTyrGluProValProAspAspAspGluThrThrThrLysSerGlnLeuAsnProAlaPheGluAspAlaTrpSerSerSerAspGluGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710797",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000676185.1:c.966C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000082.4:c.966C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501614.1:p.Tyr322Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000073.1:p.Tyr322Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825286003",
      "coordinates": [
        {
          "allele": "A",
          "end": 1246,
          "referenceAllele": "C",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003439",
      "geneNCBI_id": 1161,
      "geneSymbol": "ERCC8",
      "hgvs": [
        "NM_001007233.3:c.792C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001007234.1:p.Tyr264Ter",
        "hgvsWellDefined": "NP_001007234.1:p.Tyr264_Gly338delinsSerGlyGluGlnIleThrMetLeuLysGlyHisTyrLysThrValAspCysCysValPheGlnSerAsnPheGlnGluLeuTyrSerGlySerArgAspCysAsnIleLeuAlaTrpValProSerLeuTyrGluProValProAspAspAspGluThrThrThrLysSerGlnLeuAsnProAlaPheGluAspAlaTrpSerSerSerAspGluGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826780874",
      "coordinates": [
        {
          "allele": "A",
          "end": 946,
          "referenceAllele": "C",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003439",
      "geneNCBI_id": 1161,
      "geneSymbol": "ERCC8",
      "hgvs": [
        "NM_001290285.2:c.507C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277214.1:p.Tyr169Ter",
        "hgvsWellDefined": "NP_001277214.1:p.Tyr169_Gly243delinsSerGlyGluGlnIleThrMetLeuLysGlyHisTyrLysThrValAspCysCysValPheGlnSerAsnPheGlnGluLeuTyrSerGlySerArgAspCysAsnIleLeuAlaTrpValProSerLeuTyrGluProValProAspAspAspGluThrThrThrLysSerGlnLeuAsnProAlaPheGluAspAlaTrpSerSerSerAspGluGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716656"
    }
  ],
  "type": "nucleotide"
}