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      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001113756.3:c.1311dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107228.1:p.Leu438AlafsTer?",
        "hgvsWellDefined": "NP_001107228.1:p.[Leu438_Gly444delinsAlaProArgAlaProGlyArg;Ala446_Gly449delinsArgAlaGlnArg;Gln451_Ser452delinsAlaGluPro;Ala454_Glu457delinsProAlaGlyGly;Leu459_Val460delinsArgThr;Ser462_Asp463delinsArgPro;Pro466_Phe467delinsIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1430,
          "referenceAllele": "",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003148",
      "geneNCBI_id": 1890,
      "geneSymbol": "TYMP",
      "hgvs": [
        "NM_001953.5:c.1311dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001944.1:p.Leu438AlafsTer?",
        "hgvsWellDefined": "NP_001944.1:p.[Leu438_Gly444delinsAlaProArgAlaProGlyArg;Ala446_Gly449delinsArgAlaGlnArg;Gln451_Ser452delinsAlaGluPro;Ala454_Glu457delinsProAlaGlyGly;Leu459_Val460delinsArgThr;Ser462_Asp463delinsArgPro;Pro466_Phe467delinsIle]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000252029.8:c.1311dup"
          },
          "RefSeq": {
            "hgvs": "NM_001953.5:c.1311dup"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000252029.3:p.Leu438AlafsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001944.1:p.Leu438AlafsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 338,
          "referenceAllele": "",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_001169109.2:c.-14+338dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162580.1:n.-14+338dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713304"
    }
  ],
  "type": "nucleotide"
}