{
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  "@id": "http://reg.genome.network/allele/CA374978882",
  "communityStandardTitle": [
    "NM_001114753.3(ENG):c.1146C>A (p.Cys382Ter)"
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        "preferredName": "NM_001114753.3(ENG):c.1146C>A (p.Cys382Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1732529",
        "RCV": [
          "RCV002337620"
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        "variationId": 1732529
      }
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      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.130582305G>T?assembly=hg19",
        "id": "chr9:g.130582305G>T"
      }
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.127820026G>T?assembly=hg38",
        "id": "chr9:g.127820026G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2539064456",
        "rs": 2539064456
      }
    ]
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "9",
      "coordinates": [
        {
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          "start": 130582304
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      ],
      "hgvs": [
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "9",
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        {
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      ],
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS001605"
    }
  ],
  "transcriptAlleles": [
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      "geneNCBI_id": 2022,
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      "referenceSequence": "http://reg.genome.network/refseq/RS914135"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751176",
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        },
        "protein": {
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          }
        }
      }
    },
    {
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      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000341917.3:p.Cys382_Gln625delinsThrIleThrGlyLeuThrPheTrpAspProSerCysGluAlaGluAspArgGlyAspLysPheValLeuArgSerAlaTyrSerSerCysGlyMetGlnValSerAlaSerMetIleSerAsnGluAlaValValAsnIleLeuSerSerSerSerProGlnArgLysLysValHisCysLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgGluTyrProArgProProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262075"
    },
    {
      "coordinates": [
        {
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          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000362299.4:p.Cys382_Ala658delinsThrIleThrGlyLeuThrPheTrpAspProSerCysGluAlaGluAspArgGlyAspLysPheValLeuArgSerAlaTyrSerSerCysGlyMetGlnValSerAlaSerMetIleSerAsnGluAlaValValAsnIleLeuSerSerSerSerProGlnArgLysLysValHisCysLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269560"
    },
    {
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320452"
    },
    {
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      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS325158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825044671",
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      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000109.1:p.Cys382_Gln625delinsThrIleThrGlyLeuThrPheTrpAspProSerCysGluAlaGluAspArgGlyAspLysPheValLeuArgSerAlaTyrSerSerCysGlyMetGlnValSerAlaSerMetIleSerAsnGluAlaValValAsnIleLeuSerSerSerSerProGlnArgLysLysValHisCysLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgGluTyrProArgProProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580146205",
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      ],
      "gene": "http://reg.genome.network/gene/GN003349",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001108225.1:p.Cys382_Ala658delinsThrIleThrGlyLeuThrPheTrpAspProSerCysGluAlaGluAspArgGlyAspLysPheValLeuArgSerAlaTyrSerSerCysGlyMetGlnValSerAlaSerMetIleSerAsnGluAlaValValAsnIleLeuSerSerSerSerProGlnArgLysLysValHisCysLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011346"
    },
    {
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      "hgvs": [
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        "hgvsWellDefined": "NP_001265067.1:p.Cys200_Ala476delinsThrIleThrGlyLeuThrPheTrpAspProSerCysGluAlaGluAspArgGlyAspLysPheValLeuArgSerAlaTyrSerSerCysGlyMetGlnValSerAlaSerMetIleSerAsnGluAlaValValAsnIleLeuSerSerSerSerProGlnArgLysLysValHisCysLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1568,
          "endIntronDirection": "-",
          "endIntronOffset": 1168,
          "referenceAllele": "G",
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          "startIntronDirection": "-",
          "startIntronOffset": 1169
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS528739"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712132",
      "MANE": {
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        "maneStatus": "MANE Select",
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        },
        "protein": {
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          "RefSeq": {
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        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826581510",
      "coordinates": [
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          "end": 1272,
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      "gene": "http://reg.genome.network/gene/GN003349",
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      "geneSymbol": "ENG",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001265067.1:p.Cys200Ter",
        "hgvsWellDefined": "NP_001265067.1:p.Cys200_Ala476delinsThrIleThrGlyLeuThrPheTrpAspProSerCysGluAlaGluAspArgGlyAspLysPheValLeuArgSerAlaTyrSerSerCysGlyMetGlnValSerAlaSerMetIleSerAsnGluAlaValValAsnIleLeuSerSerSerSerProGlnArgLysLysValHisCysLeuAsnMetAspSerLeuSerPheGlnLeuGlyLeuTyrLeuSerProHisPheLeuGlnAlaSerAsnThrIleGluProGlyGlnGlnSerPheValGlnValArgValSerProSerValSerGluPheLeuLeuGlnLeuAspSerCysHisLeuAspLeuGlyProGluGlyGlyThrValGluLeuIleGlnGlyArgAlaAlaLysGlyAsnCysValSerLeuLeuSerProSerProGluGlyAspProArgPheSerPheLeuLeuHisPheTyrThrValProIleProLysThrGlyThrLeuSerCysThrValAlaLeuArgProLysThrGlySerGlnAspGlnGluValHisArgThrValPheMetArgLeuAsnIleIleSerProAspLeuSerGlyCysThrSerLysGlyLeuValLeuProAlaValLeuGlyIleThrPheGlyAlaPheLeuIleGlyAlaLeuLeuThrAlaAlaLeuTrpTyrIleTyrSerHisThrArgSerProSerLysArgGluProValValAlaValAlaAlaProAlaSerSerGluSerSerSerThrAsnHisSerIleGlySerThrGlnSerThrProCysSerThrSerSerMetAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715455"
    }
  ],
  "type": "nucleotide"
}