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  "@id": "http://reg.genome.network/allele/CA119030",
  "communityStandardTitle": [
    "NM_000376.3(VDR):c.454C>T (p.Gln152Ter)"
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  "externalRecords": {
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5577196",
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        "id": "COSM5577196"
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5577197",
        "active": true,
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7751",
        "RCV": [
          "RCV000008192"
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        "variationId": 7751
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.48251295G>A?assembly=hg19",
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      "referenceSequence": "http://reg.genome.network/refseq/RS367975"
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006438"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS008596"
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      "referenceSequence": "http://reg.genome.network/refseq/RS008597"
    },
    {
      "coordinates": [
        {
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      "proteinEffect": {
        "hgvs": "XP_006719650.1:p.Gln152Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073216"
    },
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        {
          "allele": "T",
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          "referenceAllele": "C",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS105674"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS523705"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539899"
    },
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        }
      ],
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        "hgvsWellDefined": "XP_011537022.1:p.Gln152_Ser427delinsPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553382"
    },
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        {
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          "referenceAllele": "C",
          "start": 815
        }
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_024304946.1:p.Gln175_Ser450delinsPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825159913",
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "referenceAllele": "C",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
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      "hgvs": [
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        "hgvsWellDefined": "NP_000367.1:p.Gln152_Ser427delinsPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS674816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000549336.6:c.454C>T"
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          "RefSeq": {
            "hgvs": "NM_000376.3:c.454C>T"
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        "protein": {
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            "hgvs": "ENSP00000449573.2:p.Gln152Ter"
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          "RefSeq": {
            "hgvs": "NP_000367.1:p.Gln152Ter"
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        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA119031",
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        {
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          "referenceAllele": "C",
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001017535.1:p.Gln152_Ser427delinsPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915956575",
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        {
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          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
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      "geneSymbol": "VDR",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001017536.1:p.Gln202_Ser477delinsPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675549"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828130388",
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "referenceAllele": "C",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001351014.1:p.Gln152_Pro494delinsPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690806"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828533675",
      "coordinates": [
        {
          "allele": "T",
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          "start": 1008
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001361590.1:p.Gln152_Ser427delinsPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828533899",
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "referenceAllele": "C",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012679",
      "geneNCBI_id": 7421,
      "geneSymbol": "VDR",
      "hgvs": [
        "NM_001374662.1:c.454C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361591.1:p.Gln152Ter",
        "hgvsWellDefined": "NP_001361591.1:p.Gln152_Ser427delinsPheArgProProValArgValAsnAspGlyGlyGlySerHisProSerArgProAsnSerArgHisThrProSerPheSerGlyAspSerSerSerSerCysSerAspHisCysIleThrSerSerAspMetMetAspSerSerSerPheSerAsnLeuAspLeuSerGluGluAspSerAspAspProSerValThrLeuGluLeuSerGlnLeuSerMetLeuProHisLeuAlaAspLeuValSerTyrSerIleGlnLysValIleGlyPheAlaLysMetIleProGlyPheArgAspLeuThrSerGluAspGlnIleValLeuLeuLysSerSerAlaIleGluValIleMetLeuArgSerAsnGluSerPheThrMetAspAspMetSerTrpThrCysGlyAsnGlnAspTyrLysTyrArgValSerAspValThrLysAlaGlyHisSerLeuGluLeuIleGluProLeuIleLysPheGlnValGlyLeuLysLysLeuAsnLeuHisGluGluGluHisValLeuLeuMetAlaIleCysIleValSerProAspArgProGlyValGlnAspAlaAlaLeuIleGluAlaIleGlnAspArgLeuSerAsnThrLeuGlnThrTyrIleArgCysArgHisProProProGlySerHisLeuLeuTyrAlaLysMetIleGlnLysLeuAlaAspLeuArgSerLeuAsnGluGluHisSerLysGlnTyrArgCysLeuSerPheGlnProGluCysSerMetLysLeuThrProLeuValLeuGluValPheGlyAsnGluIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693340"
    }
  ],
  "type": "nucleotide"
}