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  "@id": "http://reg.genome.network/allele/CA2702603",
  "communityStandardTitle": [
    "NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter)"
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        "preferredName": "NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter)"
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1686207",
        "RCV": [
          "RCV002246720",
          "RCV003094039"
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    ],
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      {
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    },
    {
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      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513087.2:c.637C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511389.1:p.Arg213Ter",
        "hgvsWellDefined": "XP_011511389.1:p.Arg213_Val509delinsAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "referenceAllele": "C",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_024453720.1:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309488.1:p.Arg55Ter",
        "hgvsWellDefined": "XP_024309488.1:p.Arg55_Val351delinsAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825143841",
      "coordinates": [
        {
          "allele": "T",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_000340.2:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000331.1:p.Arg228Ter",
        "hgvsWellDefined": "NP_000331.1:p.Arg228_Val524delinsAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314251.8:c.682C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000340.2:c.682C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323568.3:p.Arg228Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000331.1:p.Arg228Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826611472",
      "coordinates": [
        {
          "allele": "T",
          "end": 469,
          "referenceAllele": "C",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278658.2:c.325C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265587.1:p.Arg109Ter",
        "hgvsWellDefined": "NP_001265587.1:p.Arg109_Val405delinsAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573191771",
      "coordinates": [
        {
          "allele": "T",
          "end": 607,
          "referenceAllele": "C",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278659.2:c.163C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265588.1:p.Arg55Ter",
        "hgvsWellDefined": "NP_001265588.1:p.Arg55_Val351delinsAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681540"
    }
  ],
  "type": "nucleotide"
}