{
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  "@id": "http://reg.genome.network/allele/CA351011482",
  "communityStandardTitle": [
    "NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter)"
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        "preferredName": "NM_005199.5(CHRNG):c.613G>T (p.Glu205Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1679273",
        "RCV": [
          "RCV002226870"
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        "variationId": 1679273
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.233407600G>T?assembly=hg19",
        "id": "chr2:g.233407600G>T"
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    "MyVariantInfo_hg38": [
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        "id": "chr2:g.232542890G>T"
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2106221597",
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      }
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      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
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      ],
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS002632"
    },
    {
      "coordinates": [
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    }
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          }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274222"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "G",
          "start": 633
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      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "ENST00000389494.7:c.613G>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000374145.3:p.Glu205_Asp517delinsTrpAlaIleGlnHisArgProAlaLysMetLeuLeuAspProAlaAlaProAlaGlnGluAlaGlyHisGlnLysValValPheTyrLeuLeuIleGlnArgLysProLeuPheTyrValIleAsnIleIleAlaProCysValLeuIleSerSerValAlaIleLeuIleHisPheLeuProAlaLysAlaGlyGlyGlnLysCysThrValAlaIleAsnValLeuLeuAlaGlnThrValPheLeuPheLeuValAlaLysLysValProGluThrSerGlnAlaValProLeuIleSerLysTyrLeuThrPheLeuLeuValValThrIleLeuIleValValAsnAlaValValValLeuAsnValSerLeuArgSerProHisThrHisSerMetAlaArgGlyValArgLysValPheLeuArgLeuLeuProGlnLeuLeuArgMetHisValArgProLeuAlaProAlaAlaValGlnAspThrGlnSerArgLeuGlnAsnGlySerSerGlyTrpSerIleThrThrGlyGluGluValAlaLeuCysLeuProArgSerGluLeuLeuPheGlnGlnTrpGlnArgGlnGlyLeuValAlaAlaAlaLeuGluLysLeuGluLysGlyProGluLeuGlyLeuSerGlnPheCysGlySerLeuLysGlnAlaAlaProAlaIleGlnAlaCysValGluAlaCysAsnLeuIleAlaCysAlaArgHisGlnGlnSerHisPheAspAsnGlyAsnGluGluTrpPheLeuValGlyArgValLeuAspArgValCysPheLeuAlaMetLeuSerLeuPheIleCysGlyThrAlaGlyIlePheLeuMetAlaHisTyrAsnArgValProAlaLeuProPheProGlyAspProArgProTyrLeuProSerProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274223"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030314"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573246882",
      "coordinates": [
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          "allele": "T",
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          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001967",
      "geneNCBI_id": 1146,
      "geneSymbol": "CHRNG",
      "hgvs": [
        "NM_005199.5:c.613G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005190.4:p.Glu205Ter",
        "hgvsWellDefined": "NP_005190.4:p.Glu205_Asp517delinsTrpAlaIleGlnHisArgProAlaLysMetLeuLeuAspProAlaAlaProAlaGlnGluAlaGlyHisGlnLysValValPheTyrLeuLeuIleGlnArgLysProLeuPheTyrValIleAsnIleIleAlaProCysValLeuIleSerSerValAlaIleLeuIleHisPheLeuProAlaLysAlaGlyGlyGlnLysCysThrValAlaIleAsnValLeuLeuAlaGlnThrValPheLeuPheLeuValAlaLysLysValProGluThrSerGlnAlaValProLeuIleSerLysTyrLeuThrPheLeuLeuValValThrIleLeuIleValValAsnAlaValValValLeuAsnValSerLeuArgSerProHisThrHisSerMetAlaArgGlyValArgLysValPheLeuArgLeuLeuProGlnLeuLeuArgMetHisValArgProLeuAlaProAlaAlaValGlnAspThrGlnSerArgLeuGlnAsnGlySerSerGlyTrpSerIleThrThrGlyGluGluValAlaLeuCysLeuProArgSerGluLeuLeuPheGlnGlnTrpGlnArgGlnGlyLeuValAlaAlaAlaLeuGluLysLeuGluLysGlyProGluLeuGlyLeuSerGlnPheCysGlySerLeuLysGlnAlaAlaProAlaIleGlnAlaCysValGluAlaCysAsnLeuIleAlaCysAlaArgHisGlnGlnSerHisPheAspAsnGlyAsnGluGluTrpPheLeuValGlyArgValLeuAspArgValCysPheLeuAlaMetLeuSerLeuPheIleCysGlyThrAlaGlyIlePheLeuMetAlaHisTyrAsnArgValProAlaLeuProPheProGlyAspProArgProTyrLeuProSerProAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525291",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
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          }
        },
        "protein": {
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          },
          "RefSeq": {
            "hgvs": "NP_005190.4:p.Glu205Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}