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  "communityStandardTitle": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1684427",
        "RCV": [
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      {
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      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Leu294Ter",
        "hgvsWellDefined": "NP_001344250.1:p.Leu294_Trp672delinsGlyAlaAlaGlnHisMetValGlnTyrPheThrAlaIleGlyTyrProCysProArgTyrSerAsnProAlaAspPheTyrValAspLeuThrSerIleAspArgArgSerArgGluGlnGluLeuAlaThrArgGluLysAlaGlnSerLeuAlaAlaLeuPheLeuGluLysValArgAspLeuAspAspPheLeuTrpLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522932"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1538,
          "referenceAllele": "T",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.2:c.893T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:p.Leu298Ter",
        "hgvsWellDefined": "XP_011531331.1:p.Leu298_Trp677delinsGlyAlaAlaGlnHisMetValGlnTyrPheThrAlaIleGlyTyrProCysProArgTyrSerAsnProAlaAspPheTyrValAspLeuThrSerIleAspArgArgSerArgGluGlnGluLeuAlaThrArgGluLysAlaGlnSerLeuAlaAlaLeuPheLeuGluLysValArgAspLeuAspAspPheLeuTrpLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1383,
          "referenceAllele": "T",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.2:c.893T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:p.Leu298Ter",
        "hgvsWellDefined": "XP_011531332.1:p.Leu298_Trp676delinsGlyAlaAlaGlnHisMetValGlnTyrPheThrAlaIleGlyTyrProCysProArgTyrSerAsnProAlaAspPheTyrValAspLeuThrSerIleAspArgArgSerArgGluGlnGluLeuAlaThrArgGluLysAlaGlnSerLeuAlaAlaLeuPheLeuGluLysValArgAspLeuAspAspPheLeuTrpLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1397,
          "referenceAllele": "T",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_001738891.1:n.1397T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1397,
          "referenceAllele": "T",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.2:n.1397T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573282534",
      "coordinates": [
        {
          "allele": "G",
          "end": 964,
          "referenceAllele": "T",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.3:c.881T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:p.Leu294Ter",
        "hgvsWellDefined": "NP_071882.1:p.Leu294_Trp673delinsGlyAlaAlaGlnHisMetValGlnTyrPheThrAlaIleGlyTyrProCysProArgTyrSerAsnProAlaAspPheTyrValAspLeuThrSerIleAspArgArgSerArgGluGlnGluLeuAlaThrArgGluLysAlaGlnSerLeuAlaAlaLeuPheLeuGluLysValArgAspLeuAspAspPheLeuTrpLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670434",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.881T>G"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.881T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:p.Leu294Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:p.Leu294Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052593",
      "coordinates": [
        {
          "allele": "G",
          "end": 964,
          "referenceAllele": "T",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.2:c.881T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Leu294Ter",
        "hgvsWellDefined": "NP_001344250.1:p.Leu294_Trp672delinsGlyAlaAlaGlnHisMetValGlnTyrPheThrAlaIleGlyTyrProCysProArgTyrSerAsnProAlaAspPheTyrValAspLeuThrSerIleAspArgArgSerArgGluGlnGluLeuAlaThrArgGluLysAlaGlnSerLeuAlaAlaLeuPheLeuGluLysValArgAspLeuAspAspPheLeuTrpLysAlaGluThrLysAspLeuAspGluAspThrCysValGluSerValThrProLeuAspThrAsnCysLeuProSerProThrLysMetProGlyAlaValGlnGlnPheThrThrLeuIleArgArgGlnIleSerAsnAspPheArgAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690462"
    }
  ],
  "type": "nucleotide"
}