{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA255730",
  "communityStandardTitle": [
    "NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter)"
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        "preferredName": "NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter)"
      }
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11148",
        "RCV": [
          "RCV000011898"
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        "variationId": 11148
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.85155705_85155706delinsTC?assembly=hg19",
        "id": "chrX:g.85155705_85155706delinsTC"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chrX:g.85900700_85900701delinsTC?assembly=hg38",
        "id": "chrX:g.85900700_85900701delinsTC"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/132630263",
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      "chromosome": "X",
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    },
    {
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    },
    {
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS006451"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS097882"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS510786"
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      "referenceSequence": "http://reg.genome.network/refseq/RS513927"
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      "referenceSequence": "http://reg.genome.network/refseq/RS523018"
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      "referenceSequence": "http://reg.genome.network/refseq/RS523019"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578821"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578822"
    },
    {
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      "proteinEffect": {
        "hgvs": "XP_024308099.1:p.Ser305Ter",
        "hgvsWellDefined": "XP_024308099.1:p.Ser305_Glu505delinsArgAlaValLeuIleThrAspArgSerValLeuLysThrAspSerAspGlnGlnIleSerIleLeuThrValProAlaGluGluProGlyThrPheAlaValArgValIleGluLeuCysSerSerThrMetThrCysMetLysGlyThrTyrLeuValHisLeuThrCysThrSerSerLysThrAlaArgGluAspLeuGluSerValValGlnLysLeuPheValProTyrThrGluMetGluIleGluAsnGluGlnValGluLysProArgIleLeuTrpAlaLeuTyrPheAsnMetArgAspSerSerAspIleSerArgSerCysTyrAsnAspLeuProSerAsnValTyrValCysSerGlyProAspCysGlyLeuGlyAsnAspAsnAlaValLysGlnAlaGluThrLeuPheGlnGluIleCysProAsnGluAspPheCysProProProProAsnProGluAspIleIleLeuAspGlyAspSerLeuGlnProGluAlaSerGluSerSerAlaIleProGluAlaAsnSerGluThrPheLysGluSerThrAsnLeuGlyAsnLeuGluGluSerSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585827"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255732",
      "coordinates": [
        {
          "allele": "GA",
          "end": 1385,
          "referenceAllele": "CC",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_000390.4:c.1358_1359delinsGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_000381.1:p.Ser453Ter",
        "hgvsWellDefined": "NP_000381.1:p.Ser453_Glu653delinsArgAlaValLeuIleThrAspArgSerValLeuLysThrAspSerAspGlnGlnIleSerIleLeuThrValProAlaGluGluProGlyThrPheAlaValArgValIleGluLeuCysSerSerThrMetThrCysMetLysGlyThrTyrLeuValHisLeuThrCysThrSerSerLysThrAlaArgGluAspLeuGluSerValValGlnLysLeuPheValProTyrThrGluMetGluIleGluAsnGluGlnValGluLysProArgIleLeuTrpAlaLeuTyrPheAsnMetArgAspSerSerAspIleSerArgSerCysTyrAsnAspLeuProSerAsnValTyrValCysSerGlyProAspCysGlyLeuGlyAsnAspAsnAlaValLysGlnAlaGluThrLeuPheGlnGluIleCysProAsnGluAspPheCysProProProProAsnProGluAspIleIleLeuAspGlyAspSerLeuGlnProGluAlaSerGluSerSerAlaIleProGluAlaAsnSerGluThrPheLysGluSerThrAsnLeuGlyAsnLeuGluGluSerSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662422",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357749.7:c.1358_1359delinsGA"
          },
          "RefSeq": {
            "hgvs": "NM_000390.4:c.1358_1359delinsGA"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350386.2:p.Ser453Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000381.1:p.Ser453Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828062675",
      "coordinates": [
        {
          "allele": "GA",
          "end": 1366,
          "referenceAllele": "CC",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_001362518.2:c.914_915delinsGA"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349447.1:p.Ser305Ter",
        "hgvsWellDefined": "NP_001349447.1:p.Ser305_Glu505delinsArgAlaValLeuIleThrAspArgSerValLeuLysThrAspSerAspGlnGlnIleSerIleLeuThrValProAlaGluGluProGlyThrPheAlaValArgValIleGluLeuCysSerSerThrMetThrCysMetLysGlyThrTyrLeuValHisLeuThrCysThrSerSerLysThrAlaArgGluAspLeuGluSerValValGlnLysLeuPheValProTyrThrGluMetGluIleGluAsnGluGlnValGluLysProArgIleLeuTrpAlaLeuTyrPheAsnMetArgAspSerSerAspIleSerArgSerCysTyrAsnAspLeuProSerAsnValTyrValCysSerGlyProAspCysGlyLeuGlyAsnAspAsnAlaValLysGlnAlaGluThrLeuPheGlnGluIleCysProAsnGluAspPheCysProProProProAsnProGluAspIleIleLeuAspGlyAspSerLeuGlnProGluAlaSerGluSerSerAlaIleProGluAlaAsnSerGluThrPheLysGluSerThrAsnLeuGlyAsnLeuGluGluSerSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690508"
    }
  ],
  "type": "nucleotide"
}