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  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6327702",
  "communityStandardTitle": [
    "NM_005422.4(TECTA):c.5317C>T (p.Arg1773Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=976335[alleleid]",
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        "preferredName": "NM_005422.4(TECTA):c.5317C>T (p.Arg1773Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/988546",
        "RCV": [
          "RCV001269970"
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        "variationId": 988546
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-121036026-C-T",
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        "variant": "11:121036026 C / T"
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        "@id": "http://myvariant.info/v1/variant/chr11:g.121036026C>T?assembly=hg19",
        "id": "chr11:g.121036026C>T"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr11:g.121165317C>T?assembly=hg38",
        "id": "chr11:g.121165317C>T"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/773854426",
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    ],
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    ],
    "gnomAD_4": [
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      "referenceGenome": "GRCh38",
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      "referenceSequence": "http://reg.genome.network/refseq/RS766623"
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      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS768119"
    },
    {
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          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS768791"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS251404"
    },
    {
      "coordinates": [
        {
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275289"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829582018",
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        {
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      ],
      "gene": "http://reg.genome.network/gene/GN011720",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030518"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139744946",
      "coordinates": [
        {
          "allele": "T",
          "end": 6466,
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      ],
      "gene": "http://reg.genome.network/gene/GN054857",
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      "geneSymbol": "TBCEL-TECTA",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721832"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829582018",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN011720",
      "geneNCBI_id": 7007,
      "geneSymbol": "TECTA",
      "hgvs": [
        "NM_005422.4:c.5317C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_005413.2:p.Arg1773_Ser2155delinsThrCysGluLeuGlyAsnGlyArgGluLeuCysGlyCysIleGluProProProTyrGlyAsnAsnSerHisAspIleIleAspAlaGluValThrCysLysAlaAlaGlnMetGluValSerIleSerLysCysLysLeuPheGlnLeuGlyPheGluArgGluGlyValArgIleAsnAspArgGlnCysThrGlyIleGluGlyGluAspPheIleSerPheGlnIleAsnAsnThrLysGlyAsnCysGlyAsnIleValGlnSerAsnGlyThrHisIleMetTyrLysAsnThrLeuTrpIleGluSerAlaAsnAsnThrGlyAsnIleIleThrArgAspArgThrIleAsnValGluPheSerCysAlaTyrGluLeuAspIleLysIleSerLeuAspSerValValLysProMetLeuSerValIleAsnLeuThrValProThrGlnGluGlySerPheIleThrLysMetAlaLeuTyrLysAsnAlaSerTyrLysHisProTyrArgGlnGlyGluValValLeuThrThrArgAspValLeuTyrValGlyValPheValValGlyAlaAspAlaThrHisLeuIleLeuThrLeuAsnLysCysTyrAlaThrProThrArgAspSerAsnAspLysLeuArgTyrPheIleIleGluGlyGlyCysGlnAsnLeuLysAspAsnThrIleGlyIleGluGluAsnAlaValSerLeuThrCysArgPheHisValThrValPheLysPheIleGlyAspTyrAspGluValHisLeuHisCysAlaValSerLeuCysAspSerGluLysTyrSerCysLysIleThrCysProHisAsnSerArgIleAlaThrAspTyrThrLysGluProLysGluGlnIleIleSerValGlyProIleArgArgLysArgLeuAspTrpCysGluAspAsnGlyGlyCysGluGlnIleCysThrSerArgValAspGlyProLeuCysSerCysValThrGlyThrLeuGlnGluAspGlyLysSerCysArgAlaSerAsnSerSerMetGluLeuGlnValTrpThrLeuLeuLeuIleMetIleGlnIleSerLeuTrpHisPheValTyrLysSerGlyThrThrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000392793.6:c.5317C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005422.4:c.5317C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376543.1:p.Arg1773Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005413.2:p.Arg1773Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}