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      "gene": "http://reg.genome.network/gene/GN003481",
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      "geneSymbol": "ETFA",
      "hgvs": [
        "XR_931766.3:n.319C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809783",
      "coordinates": [
        {
          "allele": "T",
          "end": 319,
          "referenceAllele": "C",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NM_000126.4:c.238C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000117.1:p.Gln80Ter",
        "hgvsWellDefined": "NP_000117.1:p.Gln80_Lys333delinsHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000557943.6:c.238C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000126.4:c.238C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452762.1:p.Gln80Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000117.1:p.Gln80Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825658585",
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "referenceAllele": "C",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003481",
      "geneNCBI_id": 2108,
      "geneSymbol": "ETFA",
      "hgvs": [
        "NM_001127716.2:c.91C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121188.1:p.Gln31Ter",
        "hgvsWellDefined": "NP_001121188.1:p.Gln31_Lys284delinsHisAspValTyrLysGlyLeuLeuProGluGluLeuThrProLeuIleLeuAlaThrGlnLysGlnPheAsnTyrThrHisIleCysAlaGlyAlaSerAlaPheGlyLysAsnLeuLeuProArgValAlaAlaLysLeuGluValAlaProIleSerAspIleIleAlaIleLysSerProAspThrPheValArgThrIleTyrAlaGlyAsnAlaLeuCysThrValLysCysAspGluLysValLysValPheSerValArgGlyThrSerPheAspAlaAlaAlaThrSerGlyGlySerAlaSerSerGluLysAlaSerSerThrSerProValGluIleSerGluTrpLeuAspGlnLysLeuThrLysSerAspArgProGluLeuThrGlyAlaLysValValValSerGlyGlyArgGlyLeuLysSerGlyGluAsnPheLysLeuLeuTyrAspLeuAlaAspGlnLeuHisAlaAlaValGlyAlaSerArgAlaAlaValAspAlaGlyPheValProAsnAspMetGlnValGlyGlnThrGlyLysIleValAlaProGluLeuTyrIleAlaValGlyIleSerGlyAlaIleGlnHisLeuAlaGlyMetLysAspSerLysThrIleValAlaIleAsnLysAspProGluAlaProIlePheGlnValAlaAspTyrGlyIleValAlaAspLeuPheLysValValProGluMetThrGluIleLeuLysLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712230"
    }
  ],
  "type": "nucleotide"
}