{
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  "@id": "http://reg.genome.network/allele/CA356113696",
  "communityStandardTitle": [
    "NM_173660.5(DOK7):c.299G>A (p.Trp100Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1453023",
        "RCV": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS261017"
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      "referenceSequence": "http://reg.genome.network/refseq/RS335932"
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      "referenceSequence": "http://reg.genome.network/refseq/RS338435"
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      "referenceSequence": "http://reg.genome.network/refseq/RS014614"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS042981"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS080682"
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          "start": 170,
          "startIntronDirection": "+",
          "startIntronOffset": 10052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001363811.1:c.100+10053G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350740.1:n.100+10053G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513435.2:c.299G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511737.1:p.Trp100Ter",
        "hgvsWellDefined": "XP_011511737.1:p.Trp100_Arg636delinsAspAlaArgIleArgTyrAlaLeuGlyGluValHisArgPheHisValThrValAlaProGlyThrLysLeuGluSerGlyProAlaThrLeuHisLeuCysAsnAspValLeuValLeuAlaArgAspIleProProAlaValThrGlyGlnTrpLysLeuSerAspLeuArgArgTyrGlyAlaValProSerGlyPheIlePheGluGlyGlyThrArgCysGlyTyrTrpAlaGlyValPhePheLeuSerSerAlaGluGlyGluGlnIleSerPheLeuPheAspCysIleValArgGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerValArgProHisAlaProSerCysPheHisProHisProSerProProAsnLeuGlySerLysLeuGlyArgThrAspAlaIleLeuLysArgGlyThrArgLeuGlnGlyGlyValGlnProHisArgGlyGlnAlaProAlaLeuProLeuGlyPheLysAlaProPheProAspAlaArgProArgArgSerLeuSerSerProGlnAlaLeuThrProProAlaSerProThrThrProSerTrpProSerProSerAlaMetProProProLeuGlySerTrpProCysTrpProCysProCysTrpProArgCysLeuProGlyHisGlnAsnLeuAlaAlaMetPheCysGlySerSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "XM_011513437.2:c.-105G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511739.1:n.-105G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542909"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573306027",
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_173660.5:c.299G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775931.3:p.Trp100Ter",
        "hgvsWellDefined": "NP_775931.3:p.Trp100_Pro504delinsAspAlaArgIleArgTyrAlaLeuGlyGluValHisArgPheHisValThrValAlaProGlyThrLysLeuGluSerGlyProAlaThrLeuHisLeuCysAsnAspValLeuValLeuAlaArgAspIleProProAlaValThrGlyGlnTrpLysLeuSerAspLeuArgArgTyrGlyAlaValProSerGlyPheIlePheGluGlyGlyThrArgCysGlyTyrTrpAlaGlyValPhePheLeuSerSerAlaGluGlyGluGlnIleSerPheLeuPheAspCysIleValArgGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysValAsnProProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672701",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340083.6:c.299G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173660.5:c.299G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344432.5:p.Trp100Ter"
          },
          "RefSeq": {
            "hgvs": "NP_775931.3:p.Trp100Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825999350",
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001164673.2:c.299G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001158145.1:p.Trp100Ter",
        "hgvsWellDefined": "NP_001158145.1:p.Trp100_Gly255delinsAspAlaArgIleArgTyrAlaLeuGlyGluValHisArgPheHisValThrValAlaProGlyThrLysLeuGluSerGlyProAlaThrLeuHisLeuCysAsnAspValLeuValLeuAlaArgAspIleProProAlaValThrGlyGlnTrpLysLeuSerAspLeuArgArgTyrGlyAlaValProSerGlyPheIlePheGluGlyGlyThrArgGlyTrpArgLeuLeuProValLeuGlyArgGlyGlyAlaAspGlnLeuProValArgLeuHisArgProArgHisLeuProHisGlnGlyProLeuTrpAlaAlaAlaGlySerThrArgProLysSerProGlyThrLeuAspCysGlyGlyAlaCysGlyProGlySerProGlyAsnProThrAlaGlyGluAlaAlaGluProProLeuThrCysGlyGlnAlaGlyGlnTrpArgGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678361"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826861929",
      "coordinates": [
        {
          "allele": "A",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001301071.2:c.299G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288000.1:p.Trp100Ter",
        "hgvsWellDefined": "NP_001288000.1:p.Trp100_Gln608delinsAspAlaArgIleArgTyrAlaLeuGlyGluValHisArgPheHisValThrValAlaProGlyThrLysLeuGluSerGlyProAlaThrLeuHisLeuCysAsnAspValLeuValLeuAlaArgAspIleProProAlaValThrGlyGlnTrpLysLeuSerAspLeuArgArgTyrGlyAlaValProSerGlyPheIlePheGluGlyGlyThrArgCysGlyTyrTrpAlaGlyValPhePheLeuSerSerAlaGluGlyGluGlnIleSerPheLeuPheAspCysIleValArgGlyIleSerProThrLysGlyProPheGlyLeuArgProValLeuProAspProSerProProGlyProSerThrValGluGluArgValAlaGlnGluAlaLeuGluThrLeuGlnLeuGluLysArgLeuSerLeuLeuSerHisAlaGlyArgProGlySerGlyGlyAspAspArgSerLeuSerSerSerSerSerGluAlaSerHisLeuAspValSerAlaSerSerArgLeuThrAlaTrpProGluGlnSerSerSerSerAlaSerThrSerGlnGluGlyProArgProAlaAlaAlaGlnAlaAlaGlyGluAlaMetValGlyAlaSerArgProProProLysProLeuArgProArgGlnLeuGlnGluValGlyArgGlnSerSerSerAspSerGlyIleAlaThrGlySerHisSerSerTyrSerSerSerLeuSerSerTyrAlaGlySerSerLeuAspValTrpArgAlaThrAspGluLeuGlySerLeuLeuSerLeuProAlaAlaGlyAlaProGluProSerLeuCysThrCysLeuProGlyThrValGluTyrGlnValProThrSerLeuArgAlaHisTyrAspThrProArgSerLeuCysLeuAlaProArgAspHisSerProProSerGlnGlySerProGlyAsnSerAlaAlaArgAspSerGlyGlyGlnThrSerAlaGlyCysProSerGlyTrpLeuGlyThrArgArgArgGlyLeuValMetGluAlaProGlnGlySerGluAlaThrLeuProGlyProAlaProGlyGluProTrpGluAlaGlyGlyProHisAlaGlyProProProAlaPhePheSerAlaCysProValCysGlyGlyLeuLysGlyAlaAlaAlaSerAlaProGlyProAlaThrAlaHisSerGlySerProGlyProValAlaValAspSerProGlyProGluArgProArgGlyGluSerProThrTyrValAsnIleProValSerProSerSerArgLysGlnLeuHisTyrMetGlyLeuGluLeuGlnGluAlaSerGluGlyValArgGlyAlaGlyAlaSerLeuTyrAlaGlnIleAspIleMetAlaThrGluThrAlaHisArgValGlyValArgHisAlaArgAlaArgGluGluGlnLeuSerGluLeuGluGlnArgLysAlaAlaProGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683334"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "endIntronDirection": "+",
          "endIntronOffset": 10053,
          "referenceAllele": "G",
          "start": 170,
          "startIntronDirection": "+",
          "startIntronOffset": 10052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026594",
      "geneNCBI_id": 285489,
      "geneSymbol": "DOK7",
      "hgvs": [
        "NM_001363811.2:c.100+10053G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350740.1:n.100+10053G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690778"
    }
  ],
  "type": "nucleotide"
}