{
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  "@id": "http://reg.genome.network/allele/CA355489740",
  "communityStandardTitle": [
    "NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=418963[alleleid]",
        "alleleId": 418963,
        "preferredName": "NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter)"
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427888",
        "RCV": [
          "RCV000490904"
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      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.170723882C>A?assembly=hg19",
        "id": "chr3:g.170723882C>A"
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    ],
    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr3:g.171006093C>A?assembly=hg38",
        "id": "chr3:g.171006093C>A"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1114167428",
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    ]
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      "chromosome": "3",
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        {
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "3",
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      "referenceGenome": "NCBI36",
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    },
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        "maneVersion": "1.3",
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS312381"
    },
    {
      "coordinates": [
        {
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          "endIntronDirection": "-",
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          "startIntronOffset": 621
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      "referenceSequence": "http://reg.genome.network/refseq/RS313594"
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      "referenceSequence": "http://reg.genome.network/refseq/RS006403"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS021447"
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      "referenceSequence": "http://reg.genome.network/refseq/RS021448"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS080343"
    },
    {
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        {
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_011511389.1:p.Glu194Ter",
        "hgvsWellDefined": "XP_011511389.1:p.Glu194_Val509delinsPheIleLeuGlyAsnTyrAspLeuTrpHisIleLeuLeuGlyLeuSerGlyValArgAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_024453720.1:c.106G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309488.1:p.Glu36Ter",
        "hgvsWellDefined": "XP_024309488.1:p.Glu36_Val351delinsPheIleLeuGlyAsnTyrAspLeuTrpHisIleLeuLeuGlyLeuSerGlyValArgAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645486917",
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_000340.2:c.625G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000331.1:p.Glu209Ter",
        "hgvsWellDefined": "NP_000331.1:p.Glu209_Val524delinsPheIleLeuGlyAsnTyrAspLeuTrpHisIleLeuLeuGlyLeuSerGlyValArgAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314251.8:c.625G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000340.2:c.625G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323568.3:p.Glu209Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000331.1:p.Glu209Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010568",
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "referenceAllele": "G",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278658.2:c.268G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265587.1:p.Glu90Ter",
        "hgvsWellDefined": "NP_001265587.1:p.Glu90_Val405delinsPheIleLeuGlyAsnTyrAspLeuTrpHisIleLeuLeuGlyLeuSerGlyValArgAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826611577",
      "coordinates": [
        {
          "allele": "T",
          "end": 550,
          "referenceAllele": "G",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278659.2:c.106G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265588.1:p.Glu36Ter",
        "hgvsWellDefined": "NP_001265588.1:p.Glu36_Val351delinsPheIleLeuGlyAsnTyrAspLeuTrpHisIleLeuLeuGlyLeuSerGlyValArgAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681540"
    }
  ],
  "type": "nucleotide"
}