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      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "NM_014236.4:c.1297G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055051.1:p.Glu433Ter",
        "hgvsWellDefined": "NP_055051.1:p.Glu433_Leu680delinsValValProAlaSerIleLeuLeuHisSerAsnIleAlaSerLeuValLysAspGlnValIleLeuLysValAspSerGlyAspSerGluValValAspGlyLeuMetLeuGlnHisIleThrLeuLeuMetCysSerAlaTyrArgAsnGlnLeuLeuAsnIlePheValArgProSerLeuValAlaValAlaLeuGlnMetThrProGlyPheArgLysGluAspValTyrSerCysPheArgPheLeuArgAspValPheAlaAspGluPheIlePheLeuProGlyAsnThrLeuLysAspPheGluGluGlyCysTyrLeuLeuCysLysSerGluAlaIleGlnValThrThrLysAspIleLeuValThrGluLysGlyAsnThrValLeuGluPheLeuValGlyLeuPheLysProPheValGluSerTyrGlnIleIleCysLysTyrLeuLeuSerGluGluGluAspHisPheSerGluGluGlnTyrLeuAlaAlaValArgLysPheThrSerGlnLeuLeuAspGlnGlyThrSerGlnCysTyrAspValLeuSerSerAspValGlnLysAsnAlaLeuAlaAlaCysValArgLeuGlyValValGluLysLysLysIleAsnAsnAsnCysIlePheAsnValAsnGluProAlaThrThrLysLeuGluGluMetLeuGlyCysLysThrProIleGlyLysProAlaThrAlaLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668244",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366647.9:c.1297G>T"
          },
          "RefSeq": {
            "hgvs": "NM_014236.4:c.1297G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355607.4:p.Glu433Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055051.1:p.Glu433Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826956750",
      "coordinates": [
        {
          "allele": "T",
          "end": 1281,
          "referenceAllele": "G",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004416",
      "geneNCBI_id": 8443,
      "geneSymbol": "GNPAT",
      "hgvs": [
        "NM_001316350.2:c.1114G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001303279.1:p.Glu372Ter",
        "hgvsWellDefined": "NP_001303279.1:p.Glu372_Leu619delinsValValProAlaSerIleLeuLeuHisSerAsnIleAlaSerLeuValLysAspGlnValIleLeuLysValAspSerGlyAspSerGluValValAspGlyLeuMetLeuGlnHisIleThrLeuLeuMetCysSerAlaTyrArgAsnGlnLeuLeuAsnIlePheValArgProSerLeuValAlaValAlaLeuGlnMetThrProGlyPheArgLysGluAspValTyrSerCysPheArgPheLeuArgAspValPheAlaAspGluPheIlePheLeuProGlyAsnThrLeuLysAspPheGluGluGlyCysTyrLeuLeuCysLysSerGluAlaIleGlnValThrThrLysAspIleLeuValThrGluLysGlyAsnThrValLeuGluPheLeuValGlyLeuPheLysProPheValGluSerTyrGlnIleIleCysLysTyrLeuLeuSerGluGluGluAspHisPheSerGluGluGlnTyrLeuAlaAlaValArgLysPheThrSerGlnLeuLeuAspGlnGlyThrSerGlnCysTyrAspValLeuSerSerAspValGlnLysAsnAlaLeuAlaAlaCysValArgLeuGlyValValGluLysLysLysIleAsnAsnAsnCysIlePheAsnValAsnGluProAlaThrThrLysLeuGluGluMetLeuGlyCysLysThrProIleGlyLysProAlaThrAlaLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684175"
    }
  ],
  "type": "nucleotide"
}