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  "communityStandardTitle": [
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS272467"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS006506"
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      "@id": "http://reg.genome.network/allele/PA2573194212",
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          "allele": "A",
          "end": 881,
          "referenceAllele": "T",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_000444.6:c.200T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000435.3:p.Leu67Ter",
        "hgvsWellDefined": "NP_000435.3:p.Leu67_Trp749delinsSerLysValAsnLeuSerValAspProCysAspAsnPhePheArgPheAlaCysAspGlyTrpIleSerAsnAsnProIleProGluAspMetProSerTyrGlyValTyrProTrpLeuArgHisAsnValAspLeuLysLeuLysGluLeuLeuGluLysSerIleSerArgArgArgAspThrGluAlaIleGlnLysAlaLysIleLeuTyrSerSerCysMetAsnGluLysAlaIleGluLysAlaAspAlaLysProLeuLeuHisIleLeuArgHisSerProPheArgTrpProValLeuGluSerAsnIleGlyProGluGlyValTrpSerGluArgLysPheSerLeuLeuGlnThrLeuAlaThrPheArgGlyGlnTyrSerAsnSerValPheIleArgLeuTyrValSerProAspAspLysAlaSerAsnGluHisIleLeuLysLeuAspGlnAlaThrLeuSerLeuAlaValArgGluAspTyrLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisValArgCysAsnSerTyrArgProGluAlaAlaArgGluGlnValGlnIleGlyAlaHisSerProProGlnPheArgValAsnGlyAlaIleSerAsnPheGluGluPheGlnLysAlaPheAsnCysProProAsnSerThrMetAsnArgGlyMetAspSerCysArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662448",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000379374.5:c.200T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000444.6:c.200T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368682.4:p.Leu67Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000435.3:p.Leu67Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573194212",
      "coordinates": [
        {
          "allele": "A",
          "end": 881,
          "referenceAllele": "T",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NM_001282754.2:c.200T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269683.1:p.Leu67Ter",
        "hgvsWellDefined": "NP_001269683.1:p.Leu67_Asn695delinsSerLysValAsnLeuSerValAspProCysAspAsnPhePheArgPheAlaCysAspGlyTrpIleSerAsnAsnProIleProGluAspMetProSerTyrGlyValTyrProTrpLeuArgHisAsnValAspLeuLysLeuLysGluLeuLeuGluLysSerIleSerArgArgArgAspThrGluAlaIleGlnLysAlaLysIleLeuTyrSerSerCysMetAsnGluLysAlaIleGluLysAlaAspAlaLysProLeuLeuHisIleLeuArgHisSerProPheArgTrpProValLeuGluSerAsnIleGlyProGluGlyValTrpSerGluArgLysPheSerLeuLeuGlnThrLeuAlaThrPheArgGlyGlnTyrSerAsnSerValPheIleArgLeuTyrValSerProAspAspLysAlaSerAsnGluHisIleLeuLysLeuAspGlnAlaThrLeuSerLeuAlaValArgGluAspTyrLeuAspAsnSerThrGluAlaLysSerTyrArgAspAlaLeuTyrLysPheMetValAspThrAlaValLeuLeuGlyAlaAsnSerSerArgAlaGluHisAspMetLysSerValLeuArgLeuGluIleLysIleAlaGluIleMetIleProHisGluAsnArgThrSerGluAlaMetTyrAsnLysMetAsnIleSerGluLeuSerAlaMetIleProGlnPheAspTrpLeuGlyTyrIleLysLysValIleAspThrArgLeuTyrProHisLeuLysAspIleSerProSerGluAsnValValValArgValProGlnTyrPheLysAspLeuPheArgIleLeuGlySerGluArgLysLysThrIleAlaAsnTyrLeuValTrpArgMetValTyrSerArgIleProAsnLeuSerArgArgPheGlnTyrArgTrpLeuGluPheSerArgValIleGlnGlyThrThrThrLeuLeuProGlnTrpAspLysCysValAsnPheIleGluSerAlaLeuProTyrValValGlyLysMetPheValAspValTyrPheGlnGluAspLysLysGluMetMetGluGluLeuValGluGlyValArgTrpAlaPheIleAspMetLeuGluLysGluAsnGluTrpMetAspAlaGlyThrLysArgLysAlaLysGluLysAlaArgAlaValLeuAlaLysValGlyTyrProGluPheIleMetAsnAspThrHisValAsnGluAspLeuLysAlaIleLysPheSerGluAlaAspTyrPheGlyAsnValLeuGlnThrArgLysTyrLeuAlaGlnSerAspPhePheTrpLeuArgLysAlaValProLysThrGluTrpPheThrAsnProThrThrValAsnAlaPheTyrSerAlaSerThrAsnGlnIleArgPheProAlaGlyGluLeuGlnLysProPhePheTrpGlyThrGluTyrProArgSerLeuSerTyrGlyAlaIleGlyValIleValGlyHisGluPheThrHisGlyPheAspAsnAsnGlyArgLysTyrAspLysAsnGlyAsnLeuAspProTrpTrpSerThrGluSerGluGluLysPheLysGluLysThrLysCysMetIleAsnGlnTyrSerAsnTyrTyrTrpLysLysAlaGlyLeuAsnValLysGlyLysArgThrLeuGlyGluAsnIleAlaAspAsnGlyGlyLeuArgGluAlaPheArgAlaTyrArgLysTrpIleAsnAspArgArgGlnGlyLeuGluGluProLeuLeuProGlyIleThrPheThrAsnAsnGlnLeuPhePheLeuSerTyrAlaHisGlyGlnTrpCysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681890"
    }
  ],
  "type": "nucleotide"
}