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      "proteinEffect": {
        "hgvs": "ENSP00000451601.1:p.Ser2173Ter",
        "hgvsWellDefined": "ENSP00000451601.1:p.Ser2173_Asp2581delinsGlyLysTrpProSerSerArgArgSerGlnGluMetValThrGlyGlyIleLeuGlyProGlyAsnHisLeuLeuAspSerProSerLeuThrProGlyGluTyrGlyAspSerProValProThrProArgSerSerSerAlaAlaSerMetAlaGluGluGluAlaSerAlaValSerThrAlaAlaAlaGlnPheThrLysLeuArgArgGlyMetAspGluLysGluPheThrValGlnIleLysAspGluGluGlyLeuLysLeuThrPheGlnLysHisLysLeuMetAlaAsnGlyValMetGlyAspGlyHisProLeuPheHisLysLysLysGlyAsnArgLysLysLeuValGluLeuGluValGluCysMetGluGluProAsnHisLeuAspValAspLeuGluThrArgIleProValIleAsnLysValAspGlyThrLeuLeuValGlyGluAspAlaProArgArgAlaGluLeuGluMetTrpLeuGlnGlyHisProGluPheAlaValAspProArgPheLeuAlaTyrMetGluAspArgArgLysGlnLysTrpGlnArgCysLysLysAsnAsnLysAlaGluLeuAsnCysLeuGlyMetGluProValGlnThrAlaAsnSerArgAsnGlyLysLysGlyHisHisThrGluThrValPheAsnArgValLeuProGlyProIleAlaProGluSerSerLysLysArgAlaArgArgMetArgProAspLeuSerLysMetMetAlaLeuMetGlnGlyGlySerThrGlySerLeuSerLeuHisAsnThrPheGlnHisSerSerSerGlyLeuGlnSerValSerSerLeuGlyHisSerSerAlaThrSerAlaSerLeuProPheMetProPheValMetGlyGlyAlaProSerSerProHisValAspSerSerThrMetLeuHisHisHisHisHisHisProHisProHisHisHisHisHisHisHisProGlyLeuArgAlaProGlyTyrProSerSerProValThrThrAlaSerGlyThrThrLeuArgLeuProProLeuGlnProGluGluAspAspAspGluAspGluGluAspAspAspAspLeuSerGlnGlyTyrAspSerSerGluArgAspPheSerLeuIleAspAspProMetMetProAlaAsnSerAspSerSerGluAspAlaAspAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645420474",
      "coordinates": [
        {
          "allele": "A",
          "end": 6583,
          "referenceAllele": "C",
          "start": 6582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "NM_001170629.1:c.6518C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001164100.1:p.Ser2173Ter",
        "hgvsWellDefined": "NP_001164100.1:p.Ser2173_Asp2581delinsGlyLysTrpProSerSerArgArgSerGlnGluMetValThrGlyGlyIleLeuGlyProGlyAsnHisLeuLeuAspSerProSerLeuThrProGlyGluTyrGlyAspSerProValProThrProArgSerSerSerAlaAlaSerMetAlaGluGluGluAlaSerAlaValSerThrAlaAlaAlaGlnPheThrLysLeuArgArgGlyMetAspGluLysGluPheThrValGlnIleLysAspGluGluGlyLeuLysLeuThrPheGlnLysHisLysLeuMetAlaAsnGlyValMetGlyAspGlyHisProLeuPheHisLysLysLysGlyAsnArgLysLysLeuValGluLeuGluValGluCysMetGluGluProAsnHisLeuAspValAspLeuGluThrArgIleProValIleAsnLysValAspGlyThrLeuLeuValGlyGluAspAlaProArgArgAlaGluLeuGluMetTrpLeuGlnGlyHisProGluPheAlaValAspProArgPheLeuAlaTyrMetGluAspArgArgLysGlnLysTrpGlnArgCysLysLysAsnAsnLysAlaGluLeuAsnCysLeuGlyMetGluProValGlnThrAlaAsnSerArgAsnGlyLysLysGlyHisHisThrGluThrValPheAsnArgValLeuProGlyProIleAlaProGluSerSerLysLysArgAlaArgArgMetArgProAspLeuSerLysMetMetAlaLeuMetGlnGlyGlySerThrGlySerLeuSerLeuHisAsnThrPheGlnHisSerSerSerGlyLeuGlnSerValSerSerLeuGlyHisSerSerAlaThrSerAlaSerLeuProPheMetProPheValMetGlyGlyAlaProSerSerProHisValAspSerSerThrMetLeuHisHisHisHisHisHisProHisProHisHisHisHisHisHisHisProGlyLeuArgAlaProGlyTyrProSerSerProValThrThrAlaSerGlyThrThrLeuArgLeuProProLeuGlnProGluGluAspAspAspGluAspGluGluAspAspAspAspLeuSerGlnGlyTyrAspSerSerGluArgAspPheSerLeuIleAspAspProMetMetProAlaAsnSerAspSerSerGluAspAlaAspAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829936961",
      "coordinates": [
        {
          "allele": "A",
          "end": 5828,
          "referenceAllele": "C",
          "start": 5827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "NM_020920.3:c.5681C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065971.2:p.Ser1894Ter",
        "hgvsWellDefined": "NP_065971.2:p.Ser1894_Asp2302delinsGlyLysTrpProSerSerArgArgSerGlnGluMetValThrGlyGlyIleLeuGlyProGlyAsnHisLeuLeuAspSerProSerLeuThrProGlyGluTyrGlyAspSerProValProThrProArgSerSerSerAlaAlaSerMetAlaGluGluGluAlaSerAlaValSerThrAlaAlaAlaGlnPheThrLysLeuArgArgGlyMetAspGluLysGluPheThrValGlnIleLysAspGluGluGlyLeuLysLeuThrPheGlnLysHisLysLeuMetAlaAsnGlyValMetGlyAspGlyHisProLeuPheHisLysLysLysGlyAsnArgLysLysLeuValGluLeuGluValGluCysMetGluGluProAsnHisLeuAspValAspLeuGluThrArgIleProValIleAsnLysValAspGlyThrLeuLeuValGlyGluAspAlaProArgArgAlaGluLeuGluMetTrpLeuGlnGlyHisProGluPheAlaValAspProArgPheLeuAlaTyrMetGluAspArgArgLysGlnLysTrpGlnArgCysLysLysAsnAsnLysAlaGluLeuAsnCysLeuGlyMetGluProValGlnThrAlaAsnSerArgAsnGlyLysLysGlyHisHisThrGluThrValPheAsnArgValLeuProGlyProIleAlaProGluSerSerLysLysArgAlaArgArgMetArgProAspLeuSerLysMetMetAlaLeuMetGlnGlyGlySerThrGlySerLeuSerLeuHisAsnThrPheGlnHisSerSerSerGlyLeuGlnSerValSerSerLeuGlyHisSerSerAlaThrSerAlaSerLeuProPheMetProPheValMetGlyGlyAlaProSerSerProHisValAspSerSerThrMetLeuHisHisHisHisHisHisProHisProHisHisHisHisHisHisHisProGlyLeuArgAlaProGlyTyrProSerSerProValThrThrAlaSerGlyThrThrLeuArgLeuProProLeuGlnProGluGluAspAspAspGluAspGluGluAspAspAspAspLeuSerGlnGlyTyrAspSerSerGluArgAspPheSerLeuIleAspAspProMetMetProAlaAsnSerAspSerSerGluAspAlaAspAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036691"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645420474",
      "coordinates": [
        {
          "allele": "A",
          "end": 6825,
          "referenceAllele": "C",
          "start": 6824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "NM_001170629.2:c.6518C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001164100.1:p.Ser2173Ter",
        "hgvsWellDefined": "NP_001164100.1:p.Ser2173_Asp2581delinsGlyLysTrpProSerSerArgArgSerGlnGluMetValThrGlyGlyIleLeuGlyProGlyAsnHisLeuLeuAspSerProSerLeuThrProGlyGluTyrGlyAspSerProValProThrProArgSerSerSerAlaAlaSerMetAlaGluGluGluAlaSerAlaValSerThrAlaAlaAlaGlnPheThrLysLeuArgArgGlyMetAspGluLysGluPheThrValGlnIleLysAspGluGluGlyLeuLysLeuThrPheGlnLysHisLysLeuMetAlaAsnGlyValMetGlyAspGlyHisProLeuPheHisLysLysLysGlyAsnArgLysLysLeuValGluLeuGluValGluCysMetGluGluProAsnHisLeuAspValAspLeuGluThrArgIleProValIleAsnLysValAspGlyThrLeuLeuValGlyGluAspAlaProArgArgAlaGluLeuGluMetTrpLeuGlnGlyHisProGluPheAlaValAspProArgPheLeuAlaTyrMetGluAspArgArgLysGlnLysTrpGlnArgCysLysLysAsnAsnLysAlaGluLeuAsnCysLeuGlyMetGluProValGlnThrAlaAsnSerArgAsnGlyLysLysGlyHisHisThrGluThrValPheAsnArgValLeuProGlyProIleAlaProGluSerSerLysLysArgAlaArgArgMetArgProAspLeuSerLysMetMetAlaLeuMetGlnGlyGlySerThrGlySerLeuSerLeuHisAsnThrPheGlnHisSerSerSerGlyLeuGlnSerValSerSerLeuGlyHisSerSerAlaThrSerAlaSerLeuProPheMetProPheValMetGlyGlyAlaProSerSerProHisValAspSerSerThrMetLeuHisHisHisHisHisHisProHisProHisHisHisHisHisHisHisProGlyLeuArgAlaProGlyTyrProSerSerProValThrThrAlaSerGlyThrThrLeuArgLeuProProLeuGlnProGluGluAspAspAspGluAspGluGluAspAspAspAspLeuSerGlnGlyTyrAspSerSerGluArgAspPheSerLeuIleAspAspProMetMetProAlaAsnSerAspSerSerGluAspAlaAspAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678631",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000646647.2:c.6518C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001170629.2:c.6518C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495240.1:p.Ser2173Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001164100.1:p.Ser2173Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829936961",
      "coordinates": [
        {
          "allele": "A",
          "end": 5805,
          "referenceAllele": "C",
          "start": 5804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020153",
      "geneNCBI_id": 57680,
      "geneSymbol": "CHD8",
      "hgvs": [
        "NM_020920.4:c.5681C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065971.2:p.Ser1894Ter",
        "hgvsWellDefined": "NP_065971.2:p.Ser1894_Asp2302delinsGlyLysTrpProSerSerArgArgSerGlnGluMetValThrGlyGlyIleLeuGlyProGlyAsnHisLeuLeuAspSerProSerLeuThrProGlyGluTyrGlyAspSerProValProThrProArgSerSerSerAlaAlaSerMetAlaGluGluGluAlaSerAlaValSerThrAlaAlaAlaGlnPheThrLysLeuArgArgGlyMetAspGluLysGluPheThrValGlnIleLysAspGluGluGlyLeuLysLeuThrPheGlnLysHisLysLeuMetAlaAsnGlyValMetGlyAspGlyHisProLeuPheHisLysLysLysGlyAsnArgLysLysLeuValGluLeuGluValGluCysMetGluGluProAsnHisLeuAspValAspLeuGluThrArgIleProValIleAsnLysValAspGlyThrLeuLeuValGlyGluAspAlaProArgArgAlaGluLeuGluMetTrpLeuGlnGlyHisProGluPheAlaValAspProArgPheLeuAlaTyrMetGluAspArgArgLysGlnLysTrpGlnArgCysLysLysAsnAsnLysAlaGluLeuAsnCysLeuGlyMetGluProValGlnThrAlaAsnSerArgAsnGlyLysLysGlyHisHisThrGluThrValPheAsnArgValLeuProGlyProIleAlaProGluSerSerLysLysArgAlaArgArgMetArgProAspLeuSerLysMetMetAlaLeuMetGlnGlyGlySerThrGlySerLeuSerLeuHisAsnThrPheGlnHisSerSerSerGlyLeuGlnSerValSerSerLeuGlyHisSerSerAlaThrSerAlaSerLeuProPheMetProPheValMetGlyGlyAlaProSerSerProHisValAspSerSerThrMetLeuHisHisHisHisHisHisProHisProHisHisHisHisHisHisHisProGlyLeuArgAlaProGlyTyrProSerSerProValThrThrAlaSerGlyThrThrLeuArgLeuProProLeuGlnProGluGluAspAspAspGluAspGluGluAspAspAspAspLeuSerGlnGlyTyrAspSerSerGluArgAspPheSerLeuIleAspAspProMetMetProAlaAsnSerAspSerSerGluAspAlaAspAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698332"
    }
  ],
  "type": "nucleotide"
}