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  "@id": "http://reg.genome.network/allele/CA270018",
  "communityStandardTitle": [
    "NM_000390.4(CHM):c.808C>T (p.Arg270Ter)"
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143078",
        "RCV": [
          "RCV000132595",
          "RCV000519231",
          "RCV003888542"
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        "variationId": 143078
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.85213877G>A?assembly=hg19",
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        "@id": "http://myvariant.info/v1/variant/chrX:g.85958872G>A?assembly=hg38",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/527236048",
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      "chromosome": "X",
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      "referenceGenome": "NCBI36",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 126,
          "endIntronDirection": "+",
          "endIntronOffset": 68619,
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          "startIntronOffset": 68618
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      "referenceSequence": "http://reg.genome.network/refseq/RS310821"
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      "referenceSequence": "http://reg.genome.network/refseq/RS075621"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS097882"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS510786"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523017"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828062540",
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_001362518.1:c.364C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349447.1:p.Arg122Ter",
        "hgvsWellDefined": "NP_001349447.1:p.Arg122_Glu505delinsValGluGlnValProCysSerArgAlaAspValPheAsnSerLysGlnLeuThrMetValGluLysArgMetLeuMetLysPheLeuThrPheCysMetGluTyrGluLysTyrProAspGluTyrLysGlyTyrGluGluIleThrPheTyrGluTyrLeuLysThrGlnLysLeuThrProAsnLeuGlnTyrIleValMetHisSerIleAlaMetThrSerGluThrAlaSerSerThrIleAspGlyLeuLysAlaThrLysAsnPheLeuHisCysLeuGlyArgTyrGlyAsnThrProPheLeuPheProLeuTyrGlyGlnGlyGluLeuProGlnCysPheCysArgMetCysAlaValPheGlyGlyIleTyrCysLeuArgHisSerValGlnCysLeuValValAspLysGluSerArgLysCysLysAlaIleIleAspGlnPheGlyGlnArgIleIleSerGluHisPheLeuValGluAspSerTyrPheProGluAsnMetCysSerArgValGlnTyrArgGlnIleSerArgAlaValLeuIleThrAspArgSerValLeuLysThrAspSerAspGlnGlnIleSerIleLeuThrValProAlaGluGluProGlyThrPheAlaValArgValIleGluLeuCysSerSerThrMetThrCysMetLysGlyThrTyrLeuValHisLeuThrCysThrSerSerLysThrAlaArgGluAspLeuGluSerValValGlnLysLeuPheValProTyrThrGluMetGluIleGluAsnGluGlnValGluLysProArgIleLeuTrpAlaLeuTyrPheAsnMetArgAspSerSerAspIleSerArgSerCysTyrAsnAspLeuProSerAsnValTyrValCysSerGlyProAspCysGlyLeuGlyAsnAspAsnAlaValLysGlnAlaGluThrLeuPheGlnGluIleCysProAsnGluAspPheCysProProProProAsnProGluAspIleIleLeuAspGlyAspSerLeuGlnProGluAlaSerGluSerSerAlaIleProGluAlaAsnSerGluThrPheLysGluSerThrAsnLeuGlyAsnLeuGluGluSerSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828062863",
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_001362519.1:c.364C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349448.1:p.Arg122Ter",
        "hgvsWellDefined": "NP_001349448.1:p.Arg122_Glu505delinsValGluGlnValProCysSerArgAlaAspValPheAsnSerLysGlnLeuThrMetValGluLysArgMetLeuMetLysPheLeuThrPheCysMetGluTyrGluLysTyrProAspGluTyrLysGlyTyrGluGluIleThrPheTyrGluTyrLeuLysThrGlnLysLeuThrProAsnLeuGlnTyrIleValMetHisSerIleAlaMetThrSerGluThrAlaSerSerThrIleAspGlyLeuLysAlaThrLysAsnPheLeuHisCysLeuGlyArgTyrGlyAsnThrProPheLeuPheProLeuTyrGlyGlnGlyGluLeuProGlnCysPheCysArgMetCysAlaValPheGlyGlyIleTyrCysLeuArgHisSerValGlnCysLeuValValAspLysGluSerArgLysCysLysAlaIleIleAspGlnPheGlyGlnArgIleIleSerGluHisPheLeuValGluAspSerTyrPheProGluAsnMetCysSerArgValGlnTyrArgGlnIleSerArgAlaValLeuIleThrAspArgSerValLeuLysThrAspSerAspGlnGlnIleSerIleLeuThrValProAlaGluGluProGlyThrPheAlaValArgValIleGluLeuCysSerSerThrMetThrCysMetLysGlyThrTyrLeuValHisLeuThrCysThrSerSerLysThrAlaArgGluAspLeuGluSerValValGlnLysLeuPheValProTyrThrGluMetGluIleGluAsnGluGlnValGluLysProArgIleLeuTrpAlaLeuTyrPheAsnMetArgAspSerSerAspIleSerArgSerCysTyrAsnAspLeuProSerAsnValTyrValCysSerGlyProAspCysGlyLeuGlyAsnAspAsnAlaValLysGlnAlaGluThrLeuPheGlnGluIleCysProAsnGluAspPheCysProProProProAsnProGluAspIleIleLeuAspGlyAspSerLeuGlnProGluAlaSerGluSerSerAlaIleProGluAlaAsnSerGluThrPheLysGluSerThrAsnLeuGlyAsnLeuGluGluSerSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "XM_017029242.2:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884731.1:p.Arg270Ter",
        "hgvsWellDefined": "XP_016884731.1:p.Arg270_Lys602delinsValGluGlnValProCysSerArgAlaAspValPheAsnSerLysGlnLeuThrMetValGluLysArgMetLeuMetLysPheLeuThrPheCysMetGluTyrGluLysTyrProAspGluTyrLysGlyTyrGluGluIleThrPheTyrGluTyrLeuLysThrGlnLysLeuThrProAsnLeuGlnTyrIleValMetHisSerIleAlaMetThrSerGluThrAlaSerSerThrIleAspGlyLeuLysAlaThrLysAsnPheLeuHisCysLeuGlyArgTyrGlyAsnThrProPheLeuPheProLeuTyrGlyGlnGlyGluLeuProGlnCysPheCysArgMetCysAlaValPheGlyGlyIleTyrCysLeuArgHisSerValGlnCysLeuValValAspLysGluSerArgLysCysLysAlaIleIleAspGlnPheGlyGlnArgIleIleSerGluHisPheLeuValGluAspSerTyrPheProGluAsnMetCysSerArgValGlnTyrArgGlnIleSerArgAlaValLeuIleThrAspArgSerValLeuLysThrAspSerAspGlnGlnIleSerIleLeuThrValProAlaGluGluProGlyThrPheAlaValArgValIleGluLeuCysSerSerThrMetThrCysMetLysGlyThrTyrLeuValHisLeuThrCysThrSerSerLysThrAlaArgGluAspLeuGluSerValValGlnLysLeuPheValProTyrThrGluMetGluIleGluAsnGluGlnValGluLysProArgIleLeuTrpAlaLeuTyrPheAsnMetArgAspSerSerAspIleSerArgSerCysTyrAsnAspLeuProSerAsnValTyrValCysSerGlyProAspCysGlyLeuGlyAsnAspAsnAlaValLysGlnGluLeuProLeuLeuLeuLeuArgSerIleValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 807,
          "referenceAllele": "C",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "XM_017029246.1:c.364C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884735.1:p.Arg122Ter",
        "hgvsWellDefined": "XP_016884735.1:p.Arg122_Glu505delinsValGluGlnValProCysSerArgAlaAspValPheAsnSerLysGlnLeuThrMetValGluLysArgMetLeuMetLysPheLeuThrPheCysMetGluTyrGluLysTyrProAspGluTyrLysGlyTyrGluGluIleThrPheTyrGluTyrLeuLysThrGlnLysLeuThrProAsnLeuGlnTyrIleValMetHisSerIleAlaMetThrSerGluThrAlaSerSerThrIleAspGlyLeuLysAlaThrLysAsnPheLeuHisCysLeuGlyArgTyrGlyAsnThrProPheLeuPheProLeuTyrGlyGlnGlyGluLeuProGlnCysPheCysArgMetCysAlaValPheGlyGlyIleTyrCysLeuArgHisSerValGlnCysLeuValValAspLysGluSerArgLysCysLysAlaIleIleAspGlnPheGlyGlnArgIleIleSerGluHisPheLeuValGluAspSerTyrPheProGluAsnMetCysSerArgValGlnTyrArgGlnIleSerArgAlaValLeuIleThrAspArgSerValLeuLysThrAspSerAspGlnGlnIleSerIleLeuThrValProAlaGluGluProGlyThrPheAlaValArgValIleGluLeuCysSerSerThrMetThrCysMetLysGlyThrTyrLeuValHisLeuThrCysThrSerSerLysThrAlaArgGluAspLeuGluSerValValGlnLysLeuPheValProTyrThrGluMetGluIleGluAsnGluGlnValGluLysProArgIleLeuTrpAlaLeuTyrPheAsnMetArgAspSerSerAspIleSerArgSerCysTyrAsnAspLeuProSerAsnValTyrValCysSerGlyProAspCysGlyLeuGlyAsnAspAsnAlaValLysGlnAlaGluThrLeuPheGlnGluIleCysProAsnGluAspPheCysProProProProAsnProGluAspIleIleLeuAspGlyAspSerLeuGlnProGluAlaSerGluSerSerAlaIleProGluAlaAsnSerGluThrPheLysGluSerThrAsnLeuGlyAsnLeuGluGluSerSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 838,
          "referenceAllele": "C",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "XM_024452331.1:c.364C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308099.1:p.Arg122Ter",
        "hgvsWellDefined": "XP_024308099.1:p.Arg122_Glu505delinsValGluGlnValProCysSerArgAlaAspValPheAsnSerLysGlnLeuThrMetValGluLysArgMetLeuMetLysPheLeuThrPheCysMetGluTyrGluLysTyrProAspGluTyrLysGlyTyrGluGluIleThrPheTyrGluTyrLeuLysThrGlnLysLeuThrProAsnLeuGlnTyrIleValMetHisSerIleAlaMetThrSerGluThrAlaSerSerThrIleAspGlyLeuLysAlaThrLysAsnPheLeuHisCysLeuGlyArgTyrGlyAsnThrProPheLeuPheProLeuTyrGlyGlnGlyGluLeuProGlnCysPheCysArgMetCysAlaValPheGlyGlyIleTyrCysLeuArgHisSerValGlnCysLeuValValAspLysGluSerArgLysCysLysAlaIleIleAspGlnPheGlyGlnArgIleIleSerGluHisPheLeuValGluAspSerTyrPheProGluAsnMetCysSerArgValGlnTyrArgGlnIleSerArgAlaValLeuIleThrAspArgSerValLeuLysThrAspSerAspGlnGlnIleSerIleLeuThrValProAlaGluGluProGlyThrPheAlaValArgValIleGluLeuCysSerSerThrMetThrCysMetLysGlyThrTyrLeuValHisLeuThrCysThrSerSerLysThrAlaArgGluAspLeuGluSerValValGlnLysLeuPheValProTyrThrGluMetGluIleGluAsnGluGlnValGluLysProArgIleLeuTrpAlaLeuTyrPheAsnMetArgAspSerSerAspIleSerArgSerCysTyrAsnAspLeuProSerAsnValTyrValCysSerGlyProAspCysGlyLeuGlyAsnAspAsnAlaValLysGlnAlaGluThrLeuPheGlnGluIleCysProAsnGluAspPheCysProProProProAsnProGluAspIleIleLeuAspGlyAspSerLeuGlnProGluAlaSerGluSerSerAlaIleProGluAlaAsnSerGluThrPheLysGluSerThrAsnLeuGlyAsnLeuGluGluSerSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585827"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270020",
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_000390.4:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000381.1:p.Arg270Ter",
        "hgvsWellDefined": "NP_000381.1:p.Arg270_Glu653delinsValGluGlnValProCysSerArgAlaAspValPheAsnSerLysGlnLeuThrMetValGluLysArgMetLeuMetLysPheLeuThrPheCysMetGluTyrGluLysTyrProAspGluTyrLysGlyTyrGluGluIleThrPheTyrGluTyrLeuLysThrGlnLysLeuThrProAsnLeuGlnTyrIleValMetHisSerIleAlaMetThrSerGluThrAlaSerSerThrIleAspGlyLeuLysAlaThrLysAsnPheLeuHisCysLeuGlyArgTyrGlyAsnThrProPheLeuPheProLeuTyrGlyGlnGlyGluLeuProGlnCysPheCysArgMetCysAlaValPheGlyGlyIleTyrCysLeuArgHisSerValGlnCysLeuValValAspLysGluSerArgLysCysLysAlaIleIleAspGlnPheGlyGlnArgIleIleSerGluHisPheLeuValGluAspSerTyrPheProGluAsnMetCysSerArgValGlnTyrArgGlnIleSerArgAlaValLeuIleThrAspArgSerValLeuLysThrAspSerAspGlnGlnIleSerIleLeuThrValProAlaGluGluProGlyThrPheAlaValArgValIleGluLeuCysSerSerThrMetThrCysMetLysGlyThrTyrLeuValHisLeuThrCysThrSerSerLysThrAlaArgGluAspLeuGluSerValValGlnLysLeuPheValProTyrThrGluMetGluIleGluAsnGluGlnValGluLysProArgIleLeuTrpAlaLeuTyrPheAsnMetArgAspSerSerAspIleSerArgSerCysTyrAsnAspLeuProSerAsnValTyrValCysSerGlyProAspCysGlyLeuGlyAsnAspAsnAlaValLysGlnAlaGluThrLeuPheGlnGluIleCysProAsnGluAspPheCysProProProProAsnProGluAspIleIleLeuAspGlyAspSerLeuGlnProGluAlaSerGluSerSerAlaIleProGluAlaAsnSerGluThrPheLysGluSerThrAsnLeuGlyAsnLeuGluGluSerSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662422",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357749.7:c.808C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000390.4:c.808C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000350386.2:p.Arg270Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000381.1:p.Arg270Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828062540",
      "coordinates": [
        {
          "allele": "T",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NM_001362518.2:c.364C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349447.1:p.Arg122Ter",
        "hgvsWellDefined": "NP_001349447.1:p.Arg122_Glu505delinsValGluGlnValProCysSerArgAlaAspValPheAsnSerLysGlnLeuThrMetValGluLysArgMetLeuMetLysPheLeuThrPheCysMetGluTyrGluLysTyrProAspGluTyrLysGlyTyrGluGluIleThrPheTyrGluTyrLeuLysThrGlnLysLeuThrProAsnLeuGlnTyrIleValMetHisSerIleAlaMetThrSerGluThrAlaSerSerThrIleAspGlyLeuLysAlaThrLysAsnPheLeuHisCysLeuGlyArgTyrGlyAsnThrProPheLeuPheProLeuTyrGlyGlnGlyGluLeuProGlnCysPheCysArgMetCysAlaValPheGlyGlyIleTyrCysLeuArgHisSerValGlnCysLeuValValAspLysGluSerArgLysCysLysAlaIleIleAspGlnPheGlyGlnArgIleIleSerGluHisPheLeuValGluAspSerTyrPheProGluAsnMetCysSerArgValGlnTyrArgGlnIleSerArgAlaValLeuIleThrAspArgSerValLeuLysThrAspSerAspGlnGlnIleSerIleLeuThrValProAlaGluGluProGlyThrPheAlaValArgValIleGluLeuCysSerSerThrMetThrCysMetLysGlyThrTyrLeuValHisLeuThrCysThrSerSerLysThrAlaArgGluAspLeuGluSerValValGlnLysLeuPheValProTyrThrGluMetGluIleGluAsnGluGlnValGluLysProArgIleLeuTrpAlaLeuTyrPheAsnMetArgAspSerSerAspIleSerArgSerCysTyrAsnAspLeuProSerAsnValTyrValCysSerGlyProAspCysGlyLeuGlyAsnAspAsnAlaValLysGlnAlaGluThrLeuPheGlnGluIleCysProAsnGluAspPheCysProProProProAsnProGluAspIleIleLeuAspGlyAspSerLeuGlnProGluAlaSerGluSerSerAlaIleProGluAlaAsnSerGluThrPheLysGluSerThrAsnLeuGlyAsnLeuGluGluSerSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690508"
    }
  ],
  "type": "nucleotide"
}