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        "hgvs": "XP_016885063.1:p.Arg311Ter",
        "hgvsWellDefined": "XP_016885063.1:p.Arg311_Ser397delinsGluGluIleGlnGluValArgSerLysSerAspProIleMetLeuLeuLysAspArgMetValAsnSerAsnLeuAlaSerValGluGluLeuLysGluIleAspValGluValArgLysGluIleGluAspAlaAlaGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArgGlyAlaAsnGlnTrpIleLysPheLysSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579092"
    },
    {
      "@id": "http://reg.genome.network/allele/PA321114",
      "coordinates": [
        {
          "allele": "T",
          "end": 1021,
          "referenceAllele": "C",
          "start": 1020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_000284.4:c.910C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000275.1:p.Arg304Ter",
        "hgvsWellDefined": "NP_000275.1:p.Arg304_Ser390delinsGluGluIleGlnGluValArgSerLysSerAspProIleMetLeuLeuLysAspArgMetValAsnSerAsnLeuAlaSerValGluGluLeuLysGluIleAspValGluValArgLysGluIleGluAspAlaAlaGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArgGlyAlaAsnGlnTrpIleLysPheLysSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674774",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000422285.7:c.910C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000284.4:c.910C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000394382.2:p.Arg304Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000275.1:p.Arg304Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915993038",
      "coordinates": [
        {
          "allele": "T",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173454.2:c.1024C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166925.1:p.Arg342Ter",
        "hgvsWellDefined": "NP_001166925.1:p.Arg342_Ser428delinsGluGluIleGlnGluValArgSerLysSerAspProIleMetLeuLeuLysAspArgMetValAsnSerAsnLeuAlaSerValGluGluLeuLysGluIleAspValGluValArgLysGluIleGluAspAlaAlaGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArgGlyAlaAsnGlnTrpIleLysPheLysSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826088498",
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "C",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173455.2:c.931C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166926.1:p.Arg311Ter",
        "hgvsWellDefined": "NP_001166926.1:p.Arg311_Ser397delinsGluGluIleGlnGluValArgSerLysSerAspProIleMetLeuLeuLysAspArgMetValAsnSerAsnLeuAlaSerValGluGluLeuLysGluIleAspValGluValArgLysGluIleGluAspAlaAlaGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArgGlyAlaAsnGlnTrpIleLysPheLysSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826089051",
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "referenceAllele": "C",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008806",
      "geneNCBI_id": 5160,
      "geneSymbol": "PDHA1",
      "hgvs": [
        "NM_001173456.2:c.817C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166927.1:p.Arg273Ter",
        "hgvsWellDefined": "NP_001166927.1:p.Arg273_Ser359delinsGluGluIleGlnGluValArgSerLysSerAspProIleMetLeuLeuLysAspArgMetValAsnSerAsnLeuAlaSerValGluGluLeuLysGluIleAspValGluValArgLysGluIleGluAspAlaAlaGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArgGlyAlaAsnGlnTrpIleLysPheLysSerValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713473"
    }
  ],
  "type": "nucleotide"
}