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      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.3:c.263_264del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Thr88IlefsTer?",
        "hgvsWellDefined": "NP_001107228.1:p.[Thr88delinsIleGlyAlaAspProGlyProGly;Leu91Gly;Gln93Ala;Leu95_Ser98delinsGlyValAlaArg;Gln100_Gln101del;Glu103_Trp104delinsAla;Glu106Ala;Trp108_Arg109delinsCysGly;Gln111_Lys115delinsAlaPhe;Ser117_Thr118del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676725"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 383,
          "referenceAllele": "CC",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.5:c.263_264del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Thr88IlefsTer?",
        "hgvsWellDefined": "NP_001944.1:p.[Thr88delinsIleGlyAlaAspProGlyProGly;Leu91Gly;Gln93Ala;Leu95_Ser98delinsGlyValAlaArg;Gln100_Gln101del;Glu103_Trp104delinsAla;Glu106Ala;Trp108_Arg109delinsCysGly;Gln111_Lys115delinsAlaPhe;Ser117_Thr118del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.263_264del"
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.263_264del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Thr88IlefsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Thr88IlefsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}