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        "NM_014297.5:c.187C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055112.2:p.Gln63Ter",
        "hgvsWellDefined": "NP_055112.2:p.Gln63_Ala254delinsLeuIleLysGluLeuGlyLeuArgLeuLeuTyrAlaValAsnThrHisCysHisAlaAspHisIleThrGlySerGlyLeuLeuArgSerLeuLeuProGlyCysGlnSerValIleSerArgLeuSerGlyAlaGlnAlaAspLeuHisIleGluAspGlyAspSerIleArgPheGlyArgPheAlaLeuGluThrArgAlaSerProGlyHisThrProGlyCysValThrPheValLeuAsnAspHisSerMetAlaPheThrGlyAspAlaLeuLeuIleArgGlyCysGlyArgThrAspPheGlnGlnGlyCysAlaLysThrLeuTyrHisSerValHisGluLysIlePheThrLeuProGlyAspCysLeuIleTyrProAlaHisAspTyrHisGlyPheThrValSerThrValGluGluGluArgThrLeuAsnProArgLeuThrLeuSerCysGluGluPheValLysIleMetGlyAsnLeuAsnLeuProLysProGlnGlnIleAspPheAlaValProAlaAsnMetArgCysGlyValGlnThrProThrAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668277",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000292147.7:c.187C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014297.5:c.187C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000292147.1:p.Gln63Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055112.2:p.Gln63Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827058403",
      "coordinates": [
        {
          "allele": "T",
          "end": 211,
          "referenceAllele": "C",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023287",
      "geneNCBI_id": 23474,
      "geneSymbol": "ETHE1",
      "hgvs": [
        "NM_001320867.2:c.187C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307796.1:p.Gln63Ter",
        "hgvsWellDefined": "NP_001307796.1:p.Gln63_Ala243delinsLeuIleLysGluLeuGlyLeuArgLeuLeuTyrAlaGlySerGlyLeuLeuArgSerLeuLeuProGlyCysGlnSerValIleSerArgLeuSerGlyAlaGlnAlaAspLeuHisIleGluAspGlyAspSerIleArgPheGlyArgPheAlaLeuGluThrArgAlaSerProGlyHisThrProGlyCysValThrPheValLeuAsnAspHisSerMetAlaPheThrGlyAspAlaLeuLeuIleArgGlyCysGlyArgThrAspPheGlnGlnGlyCysAlaLysThrLeuTyrHisSerValHisGluLysIlePheThrLeuProGlyAspCysLeuIleTyrProAlaHisAspTyrHisGlyPheThrValSerThrValGluGluGluArgThrLeuAsnProArgLeuThrLeuSerCysGluGluPheValLysIleMetGlyAsnLeuAsnLeuProLysProGlnGlnIleAspPheAlaValProAlaAsnMetArgCysGlyValGlnThrProThrAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 211,
          "referenceAllele": "C",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023287",
      "geneNCBI_id": 23474,
      "geneSymbol": "ETHE1",
      "hgvs": [
        "NM_001320868.2:c.-34C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307797.1:n.-34C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105,
          "endIntronDirection": "+",
          "endIntronOffset": 543,
          "referenceAllele": "C",
          "start": 105,
          "startIntronDirection": "+",
          "startIntronOffset": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023287",
      "geneNCBI_id": 23474,
      "geneSymbol": "ETHE1",
      "hgvs": [
        "NM_001320869.2:c.81+543C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307798.1:n.81+543C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685089"
    }
  ],
  "type": "nucleotide"
}