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      ],
      "proteinEffect": {
        "hgvs": "NP_001356347.1:p.Lys226Ter",
        "hgvsWellDefined": "NP_001356347.1:p.Lys226_Pro273delinsLeuGluGlnAspPheValSerArgSerLeuGluGlnLeuIleAlaAlaSerArgGluAspLeuAlaLeuCysProGlyLeuGlyProGlnLysAlaArgArgLeuPheAspValLeuHisGluProPheLeuLysValProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691643"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828329978",
      "coordinates": [
        {
          "allele": "T",
          "end": 830,
          "referenceAllele": "A",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003433",
      "geneNCBI_id": 2067,
      "geneSymbol": "ERCC1",
      "hgvs": [
        "NM_001369419.1:c.676A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356348.1:p.Lys226Ter",
        "hgvsWellDefined": "NP_001356348.1:p.Lys226_Pro273delinsLeuGluGlnAspPheValSerArgSerLeuGluGlnLeuIleAlaAlaSerArgGluAspLeuAlaLeuCysProGlyLeuGlyProGlnLysAlaArgArgLeuPheAspValLeuHisGluProPheLeuLysValProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829367727",
      "coordinates": [
        {
          "allele": "T",
          "end": 820,
          "referenceAllele": "A",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003433",
      "geneNCBI_id": 2067,
      "geneSymbol": "ERCC1",
      "hgvs": [
        "NM_001983.4:c.676A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001974.1:p.Lys226Ter",
        "hgvsWellDefined": "NP_001974.1:p.Lys226_Pro297delinsLeuGluGlnAspPheValSerArgValThrGluCysLeuThrThrValLysSerValAsnLysThrAspSerGlnThrLeuLeuThrThrPheGlySerLeuGluGlnLeuIleAlaAlaSerArgGluAspLeuAlaLeuCysProGlyLeuGlyProGlnLysAlaArgArgLeuPheAspValLeuHisGluProPheLeuLysValProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695420",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000300853.8:c.676A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001983.4:c.676A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000300853.3:p.Lys226Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001974.1:p.Lys226Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645415284",
      "coordinates": [
        {
          "allele": "T",
          "end": 830,
          "referenceAllele": "A",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003433",
      "geneNCBI_id": 2067,
      "geneSymbol": "ERCC1",
      "hgvs": [
        "NM_202001.3:c.676A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_973730.1:p.Lys226Ter",
        "hgvsWellDefined": "NP_973730.1:p.Lys226_Leu323delinsLeuGluGlnAspPheValSerArgValThrGluCysLeuThrThrValLysSerValAsnLysThrAspSerGlnThrLeuLeuThrThrPheGlySerLeuGluGlnLeuIleAlaAlaSerArgGluAspLeuAlaLeuCysProGlyLeuGlyProGlnLysValArgAlaLeuGlyLysAsnProArgSerTrpGlyLysGluArgAlaProAsnLysHisAsnLeuArgProGlnSerPheLysValLysLysGluProLysThrArgHisSerGlyPheArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701600"
    }
  ],
  "type": "nucleotide"
}