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      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "XR_001755695.1:n.821C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601328"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645511061",
      "coordinates": [
        {
          "allele": "T",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_000444.6:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000435.3:p.Gln48Ter",
        "hgvsWellDefined": "NP_000435.3:p.Gln48_Trp749delinsAlaLysGlnGluTyrCysLeuLysProGluCysIleGluAlaAlaAlaAlaIleLeuSerLysValAsnLeuSerValAspProCysAspAsnPhePheArgPheAlaCysAspGlyTrpIleSerAsnAsnProIleProGluAspMetProSerTyrGlyValTyrProTrpLeuArgHisAsnValAspLeuLysLeuLysGluLeuLeuGluLysSerIleSerArgArgArgAspThrGluAlaIleGlnLysAlaLysIleLeuTyrSerSerCysMetAsnGluLysAlaIleGluLysAlaAspAlaLysProLeuLeuHisIleLeuArgHisSerProPheArgTrpProValLeuGluSerAsnIleGlyProGluGlyValTrpSerGluArgLysPheSerLeuLeuGlnThrLeuAlaThrPheArgGlyGlnTyrSerAsnSerValPheIleArgLeuTyrValSerProAspAspLysAlaSerAsnGluHisIleLeuLysLeuAspGlnAlaThrLeuSerLeuAlaValArgGluAspTyrLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379374.5:c.142C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000444.6:c.142C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368682.4:p.Gln48Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000435.3:p.Gln48Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916013827",
      "coordinates": [
        {
          "allele": "T",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_001282754.2:c.142C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269683.1:p.Gln48Ter",
        "hgvsWellDefined": "NP_001269683.1:p.Gln48_Asn695delinsAlaLysGlnGluTyrCysLeuLysProGluCysIleGluAlaAlaAlaAlaIleLeuSerLysValAsnLeuSerValAspProCysAspAsnPhePheArgPheAlaCysAspGlyTrpIleSerAsnAsnProIleProGluAspMetProSerTyrGlyValTyrProTrpLeuArgHisAsnValAspLeuLysLeuLysGluLeuLeuGluLysSerIleSerArgArgArgAspThrGluAlaIleGlnLysAlaLysIleLeuTyrSerSerCysMetAsnGluLysAlaIleGluLysAlaAspAlaLysProLeuLeuHisIleLeuArgHisSerProPheArgTrpProValLeuGluSerAsnIleGlyProGluGlyValTrpSerGluArgLysPheSerLeuLeuGlnThrLeuAlaThrPheArgGlyGlnTyrSerAsnSerValPheIleArgLeuTyrValSerProAspAspLysAlaSerAsnGluHisIleLeuLysLeuAspGlnAlaThrLeuSerLeuAlaValArgGluAspTyrLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisGlyGlnTrpCysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681890"
    }
  ],
  "type": "nucleotide"
}