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      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gln20Ter",
        "hgvsWellDefined": "NP_001341233.1:p.Gln20_Lys452delinsGluThrSerTyrIleGluAspAsnCysAsnGlnAsnGlyAlaIleSerLeuIlePheSerLeuLysGluGluValGlyAlaLeuAlaLysValLeuArgLeuPheGluGluAsnAspValAsnLeuThrHisIleGluSerArgProSerArgLeuLysLysAspGluTyrGluPhePheThrHisLeuAspLysArgSerLeuProAlaLeuThrAsnIleIleLysIleLeuArgHisAspIleGlyAlaThrValHisGluLeuSerArgAspLysLysLysAspThrValProTrpPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "referenceAllele": "C",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "XM_017019370.2:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874859.1:p.Gln20Ter",
        "hgvsWellDefined": "XP_016874859.1:p.Gln20_Leu240delinsGluThrSerTyrIleGluAspAsnCysAsnGlnAsnGlyAlaIleSerLeuIlePheSerLeuLysGluGluValGlyAlaLeuAlaLysValLeuArgLeuPheGluGluAsnAspValAsnLeuThrHisIleGluSerArgProSerArgLeuLysLysAspGluTyrGluPhePheThrHisLeuAspLysArgSerLeuProAlaLeuThrAsnIleIleLysIleLeuArgHisAspIleGlyAlaThrValHisGluLeuSerArgAspLysLysLysAspThrValProTrpPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnIleProAlaValLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229636",
      "coordinates": [
        {
          "allele": "T",
          "end": 172,
          "referenceAllele": "C",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_000277.3:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000268.1:p.Gln20Ter",
        "hgvsWellDefined": "NP_000268.1:p.Gln20_Lys452delinsGluThrSerTyrIleGluAspAsnCysAsnGlnAsnGlyAlaIleSerLeuIlePheSerLeuLysGluGluValGlyAlaLeuAlaLysValLeuArgLeuPheGluGluAsnAspValAsnLeuThrHisIleGluSerArgProSerArgLeuLysLysAspGluTyrGluPhePheThrHisLeuAspLysArgSerLeuProAlaLeuThrAsnIleIleLysIleLeuArgHisAspIleGlyAlaThrValHisGluLeuSerArgAspLysLysLysAspThrValProTrpPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662381",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000553106.6:c.58C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000277.3:c.58C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448059.1:p.Gln20Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000268.1:p.Gln20Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916037352",
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008582",
      "geneNCBI_id": 5053,
      "geneSymbol": "PAH",
      "hgvs": [
        "NM_001354304.2:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341233.1:p.Gln20Ter",
        "hgvsWellDefined": "NP_001341233.1:p.Gln20_Lys452delinsGluThrSerTyrIleGluAspAsnCysAsnGlnAsnGlyAlaIleSerLeuIlePheSerLeuLysGluGluValGlyAlaLeuAlaLysValLeuArgLeuPheGluGluAsnAspValAsnLeuThrHisIleGluSerArgProSerArgLeuLysLysAspGluTyrGluPhePheThrHisLeuAspLysArgSerLeuProAlaLeuThrAsnIleIleLysIleLeuArgHisAspIleGlyAlaThrValHisGluLeuSerArgAspLysLysLysAspThrValProTrpPheProArgThrIleGlnGluLeuAspArgPheAlaAsnGlnIleLeuSerTyrGlyAlaGluLeuAspAlaAspHisProGlyPheLysAspProValTyrArgAlaArgArgLysGlnPheAlaAspIleAlaTyrAsnTyrArgHisGlyGlnProIleProArgValGluTyrMetGluGluGluLysLysThrTrpGlyThrValPheLysThrLeuLysSerLeuTyrLysThrHisAlaCysTyrGluTyrAsnHisIlePheProLeuLeuGluLysTyrCysGlyPheHisGluAspAsnIleProGlnLeuGluAspValSerGlnPheLeuGlnThrCysThrGlyPheArgLeuArgProValAlaGlyLeuLeuSerSerArgAspPheLeuGlyGlyLeuAlaPheArgValPheHisCysThrGlnTyrIleArgHisGlySerLysProMetTyrThrProGluProAspIleCysHisGluLeuLeuGlyHisValProLeuPheSerAspArgSerPheAlaGlnPheSerGlnGluIleGlyLeuAlaSerLeuGlyAlaProAspGluTyrIleGluLysLeuAlaThrIleTyrTrpPheThrValGluPheGlyLeuCysLysGlnGlyAspSerIleLysAlaTyrGlyAlaGlyLeuLeuSerSerPheGlyGluLeuGlnTyrCysLeuSerGluLysProLysLeuLeuProLeuGluLeuGluLysThrAlaIleGlnAsnTyrThrValThrGluPheGlnProLeuTyrTyrValAlaGluSerPheAsnAspAlaLysGluLysValArgAsnPheAlaAlaThrIleProArgProPheSerValArgTyrAspProTyrThrGlnArgIleGluValLeuAspAsnThrGlnGlnLeuLysIleLeuAlaAspSerIleAsnSerGluIleGlyIleLeuCysSerAlaLeuGlnLysIleLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690142"
    }
  ],
  "type": "nucleotide"
}