{
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  "@id": "http://reg.genome.network/allele/CA351002080",
  "communityStandardTitle": [
    "NM_004826.4(ECEL1):c.870C>A (p.Tyr290Ter)"
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        "preferredName": "NM_004826.4(ECEL1):c.870C>A (p.Tyr290Ter)"
      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1679327",
        "RCV": [
          "RCV002226924"
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        "variationId": 1679327
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.233349787G>T?assembly=hg19",
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        "@id": "http://myvariant.info/v1/variant/chr2:g.232485077G>T?assembly=hg38",
        "id": "chr2:g.232485077G>T"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1281396824",
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    ]
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    },
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      "referenceGenome": "NCBI36",
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS005725"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255471"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281982"
    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS322064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826788920",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024149"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573243453",
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        "hgvsWellDefined": "NP_004817.2:p.Tyr290_Trp775delinsArgValPheMetGluArgValLeuSerLeuLeuGlyAlaAspAlaValGluGlnLysAlaGlnGluIleLeuGlnValGluGlnGlnLeuAlaAsnIleThrValSerGluHisAspAspLeuArgArgAspValSerSerMetTyrAsnLysValThrLeuGlyGlnLeuGlnLysIleThrProHisLeuArgTrpLysTrpLeuLeuAspGlnIlePheGlnGluAspPheSerGluGluGluGluValValLeuLeuAlaThrAspTyrMetGlnGlnValSerGlnLeuIleArgSerThrProHisArgValLeuHisAsnTyrLeuValTrpArgValValValValLeuSerGluHisLeuSerProProPheArgGluAlaLeuHisGluLeuAlaGlnGluMetGluGlySerAspLysProGlnGluLeuAlaArgValCysLeuGlyGlnAlaAsnArgHisPheGlyMetAlaLeuGlyAlaLeuPheValHisGluHisPheSerAlaAlaSerLysAlaLysValGlnGlnLeuValGluAspIleLysTyrIleLeuGlyGlnArgLeuGluGluLeuAspTrpMetAspAlaGluThrArgAlaAlaAlaArgAlaLysLeuGlnTyrMetMetValMetValGlyTyrProAspPheLeuLeuLysProAspAlaValAspLysGluTyrGluPheGluValHisGluLysThrTyrPheLysAsnIleLeuAsnSerIleArgPheSerIleGlnLeuSerValLysLysIleArgGlnGluValAspLysSerThrTrpLeuLeuProProGlnAlaLeuAsnAlaTyrTyrLeuProAsnLysAsnGlnMetValPheProAlaGlyIleLeuGlnProThrLeuTyrAspProAspPheProGlnSerLeuAsnTyrGlyGlyIleGlyThrIleIleGlyHisGluLeuThrHisGlyTyrAspAspTrpGlyGlyGlnTyrAspArgSerGlyAsnLeuLeuHisTrpTrpThrGluAlaSerTyrSerArgPheLeuArgLysAlaGluCysIleValArgLeuTyrAspAsnPheThrValTyrAsnGlnArgValAsnGlyLysHisThrLeuGlyGluAsnIleAlaAspMetGlyGlyLeuLysLeuAlaTyrHisAlaTyrGlnLysTrpValArgGluHisGlyProGluHisProLeuProArgLeuLysTyrThrHisAspGlnLeuPhePheIleAlaPheAlaGlnAsnTrpCysIleLysArgArgSerGlnSerIleTyrLeuGlnValLeuThrAspLysHisAlaProGluHisTyrArgValLeuGlySerValSerGlnPheGluGluPheGlyArgAlaPheHisCysProLysAspSerProMetAsnProAlaHisLysCysSerValTrpTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS029971"
    },
    {
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    {
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      "proteinEffect": {
        "hgvs": "NP_001277716.1:p.Tyr290Ter",
        "hgvsWellDefined": "NP_001277716.1:p.Tyr290_Trp773delinsArgValPheMetGluArgValLeuSerLeuLeuGlyAlaAspAlaValGluGlnLysAlaGlnGluIleLeuGlnValGluGlnGlnLeuAlaAsnIleThrValSerGluHisAspAspLeuArgArgAspValSerSerMetTyrAsnLysValThrLeuGlyGlnLeuGlnLysIleThrProHisLeuArgTrpLysTrpLeuLeuAspGlnIlePheGlnGluAspPheSerGluGluGluGluValValLeuLeuAlaThrAspTyrMetGlnGlnValSerGlnLeuIleArgSerThrProHisArgValLeuHisAsnTyrLeuValTrpArgValValValValLeuSerGluHisLeuSerProProPheArgGluAlaLeuHisGluLeuAlaGlnGluMetGluGlySerAspLysProGlnGluLeuAlaArgValCysLeuGlyGlnAlaAsnArgHisPheGlyMetAlaLeuGlyAlaLeuPheValHisGluHisPheSerAlaAlaSerLysAlaLysValGlnGlnLeuValGluAspIleLysTyrIleLeuGlyGlnArgLeuGluGluLeuAspTrpMetAspAlaGluThrArgAlaAlaAlaArgAlaLysLeuGlnTyrMetMetValMetValGlyTyrProAspPheLeuLeuLysProAspAlaValAspLysGluTyrGluPheGluValHisGluLysThrTyrPheLysAsnIleLeuAsnSerIleArgPheSerIleGlnLeuSerValLysLysIleArgGlnGluValAspLysTrpLeuLeuProProGlnAlaLeuAsnAlaTyrTyrLeuProAsnLysAsnGlnMetValPheProAlaGlyIleLeuGlnProThrLeuTyrAspProAspPheProGlnSerLeuAsnTyrGlyGlyIleGlyThrIleIleGlyHisGluLeuThrHisGlyTyrAspAspTrpGlyGlyGlnTyrAspArgSerGlyAsnLeuLeuHisTrpTrpThrGluAlaSerTyrSerArgPheLeuArgLysAlaGluCysIleValArgLeuTyrAspAsnPheThrValTyrAsnGlnArgValAsnGlyLysHisThrLeuGlyGluAsnIleAlaAspMetGlyGlyLeuLysLeuAlaTyrHisAlaTyrGlnLysTrpValArgGluHisGlyProGluHisProLeuProArgLeuLysTyrThrHisAspGlnLeuPhePheIleAlaPheAlaGlnAsnTrpCysIleLysArgArgSerGlnSerIleTyrLeuGlnValLeuThrAspLysHisAlaProGluHisTyrArgValLeuGlySerValSerGlnPheGluGluPheGlyArgAlaPheHisCysProLysAspSerProMetAsnProAlaHisLysCysSerValTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682769"
    }
  ],
  "type": "nucleotide"
}