{
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  "@id": "http://reg.genome.network/allele/CA373770425",
  "communityStandardTitle": [
    "NM_006914.4(RORB):c.673G>T (p.Glu225Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1348617[alleleid]",
        "alleleId": 1348617,
        "preferredName": "NM_006914.4(RORB):c.673G>T (p.Glu225Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1384338",
        "RCV": [
          "RCV001895924"
        ],
        "variationId": 1384338
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.77275568G>T?assembly=hg19",
        "id": "chr9:g.77275568G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.74660652G>T?assembly=hg38",
        "id": "chr9:g.74660652G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2118510935",
        "rs": 2118510935
      }
    ]
  },
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      "chromosome": "9",
      "coordinates": [
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          "referenceAllele": "G",
          "start": 74660651
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
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          "end": 77275568,
          "referenceAllele": "G",
          "start": 77275567
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      ],
      "hgvs": [
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      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
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          "end": 76465388,
          "referenceAllele": "G",
          "start": 76465387
        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
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          "end": 168317,
          "referenceAllele": "G",
          "start": 168316
        }
      ],
      "hgvs": [
        "NG_046926.2:g.168317G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616463"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "end": 1315,
          "referenceAllele": "G",
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        }
      ],
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      "geneNCBI_id": 6096,
      "geneSymbol": "RORB",
      "hgvs": [
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751830",
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        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000376896.8:c.673G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006914.4:c.673G>T"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000366093.2:p.Glu225Ter"
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          }
        }
      }
    },
    {
      "coordinates": [
        {
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      "gene": "http://reg.genome.network/gene/GN010259",
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      "geneSymbol": "RORB",
      "hgvs": [
        "ENST00000376896.7:c.673G>T"
      ],
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        "hgvsWellDefined": "ENSP00000366093.2:p.Glu225_Lys459delinsThrCysGlnTyrThrMetGluGluLeuHisGlnLeuAlaTrpGlnThrHisThrTyrGluGluIleLysAlaTyrGlnSerLysSerArgGluAlaLeuTrpGlnGlnCysAlaIleGlnIleThrHisAlaIleGlnTyrValValGluPheAlaLysArgIleThrGlyPheMetGluLeuCysGlnAsnAspGlnIleLeuLeuLeuLysSerGlyCysLeuGluValValLeuValArgMetCysArgAlaPheAsnProLeuAsnAsnThrValLeuPheGluGlyLysTyrGlyGlyMetGlnMetPheLysAlaLeuGlySerAspAspLeuValAsnGluAlaPheAspPheAlaLysAsnLeuCysSerLeuGlnLeuThrGluGluGluIleAlaLeuPheSerSerAlaValLeuIleSerProAspArgAlaTrpLeuIleGluProArgLysValGlnLysLeuGlnGluLysIleTyrPheAlaLeuGlnHisValIleGlnLysAsnHisLeuAspAspGluThrLeuAlaLysLeuIleAlaLysIleProThrIleThrAlaValCysAsnLeuHisGlyGluLysLeuGlnValPheLysGlnSerHisProGluIleValAsnThrLeuPheProProLeuTyrLysGluLeuPheAsnProAspCysAlaThrGlyCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
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      ],
      "gene": "http://reg.genome.network/gene/GN010259",
      "geneNCBI_id": 6096,
      "geneSymbol": "RORB",
      "hgvs": [
        "ENST00000396204.2:c.706G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379507.2:p.Glu236Ter",
        "hgvsWellDefined": "ENSP00000379507.2:p.Glu236_Lys470delinsThrCysGlnTyrThrMetGluGluLeuHisGlnLeuAlaTrpGlnThrHisThrTyrGluGluIleLysAlaTyrGlnSerLysSerArgGluAlaLeuTrpGlnGlnCysAlaIleGlnIleThrHisAlaIleGlnTyrValValGluPheAlaLysArgIleThrGlyPheMetGluLeuCysGlnAsnAspGlnIleLeuLeuLeuLysSerGlyCysLeuGluValValLeuValArgMetCysArgAlaPheAsnProLeuAsnAsnThrValLeuPheGluGlyLysTyrGlyGlyMetGlnMetPheLysAlaLeuGlySerAspAspLeuValAsnGluAlaPheAspPheAlaLysAsnLeuCysSerLeuGlnLeuThrGluGluGluIleAlaLeuPheSerSerAlaValLeuIleSerProAspArgAlaTrpLeuIleGluProArgLysValGlnLysLeuGlnGluLysIleTyrPheAlaLeuGlnHisValIleGlnLysAsnHisLeuAspAspGluThrLeuAlaLysLeuIleAlaLysIleProThrIleThrAlaValCysAsnLeuHisGlyGluLysLeuGlnValPheLysGlnSerHisProGluIleValAsnThrLeuPheProProLeuTyrLysGluLeuPheAsnProAspCysAlaThrGlyCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277151"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829672579",
      "coordinates": [
        {
          "allele": "T",
          "end": 1314,
          "referenceAllele": "G",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010259",
      "geneNCBI_id": 6096,
      "geneSymbol": "RORB",
      "hgvs": [
        "NM_006914.3:c.673G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008845.2:p.Glu225Ter",
        "hgvsWellDefined": "NP_008845.2:p.Glu225_Lys459delinsThrCysGlnTyrThrMetGluGluLeuHisGlnLeuAlaTrpGlnThrHisThrTyrGluGluIleLysAlaTyrGlnSerLysSerArgGluAlaLeuTrpGlnGlnCysAlaIleGlnIleThrHisAlaIleGlnTyrValValGluPheAlaLysArgIleThrGlyPheMetGluLeuCysGlnAsnAspGlnIleLeuLeuLeuLysSerGlyCysLeuGluValValLeuValArgMetCysArgAlaPheAsnProLeuAsnAsnThrValLeuPheGluGlyLysTyrGlyGlyMetGlnMetPheLysAlaLeuGlySerAspAspLeuValAsnGluAlaPheAspPheAlaLysAsnLeuCysSerLeuGlnLeuThrGluGluGluIleAlaLeuPheSerSerAlaValLeuIleSerProAspArgAlaTrpLeuIleGluProArgLysValGlnLysLeuGlnGluLysIleTyrPheAlaLeuGlnHisValIleGlnLysAsnHisLeuAspAspGluThrLeuAlaLysLeuIleAlaLysIleProThrIleThrAlaValCysAsnLeuHisGlyGluLysLeuGlnValPheLysGlnSerHisProGluIleValAsnThrLeuPheProProLeuTyrLysGluLeuPheAsnProAspCysAlaThrGlyCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573209958",
      "coordinates": [
        {
          "allele": "T",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010259",
      "geneNCBI_id": 6096,
      "geneSymbol": "RORB",
      "hgvs": [
        "NM_001365023.1:c.706G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351952.1:p.Glu236Ter",
        "hgvsWellDefined": "NP_001351952.1:p.Glu236_Lys470delinsThrCysGlnTyrThrMetGluGluLeuHisGlnLeuAlaTrpGlnThrHisThrTyrGluGluIleLysAlaTyrGlnSerLysSerArgGluAlaLeuTrpGlnGlnCysAlaIleGlnIleThrHisAlaIleGlnTyrValValGluPheAlaLysArgIleThrGlyPheMetGluLeuCysGlnAsnAspGlnIleLeuLeuLeuLysSerGlyCysLeuGluValValLeuValArgMetCysArgAlaPheAsnProLeuAsnAsnThrValLeuPheGluGlyLysTyrGlyGlyMetGlnMetPheLysAlaLeuGlySerAspAspLeuValAsnGluAlaPheAspPheAlaLysAsnLeuCysSerLeuGlnLeuThrGluGluGluIleAlaLeuPheSerSerAlaValLeuIleSerProAspArgAlaTrpLeuIleGluProArgLysValGlnLysLeuGlnGluLysIleTyrPheAlaLeuGlnHisValIleGlnLysAsnHisLeuAspAspGluThrLeuAlaLysLeuIleAlaLysIleProThrIleThrAlaValCysAsnLeuHisGlyGluLysLeuGlnValPheLysGlnSerHisProGluIleValAsnThrLeuPheProProLeuTyrLysGluLeuPheAsnProAspCysAlaThrGlyCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829672579",
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "G",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010259",
      "geneNCBI_id": 6096,
      "geneSymbol": "RORB",
      "hgvs": [
        "NM_006914.4:c.673G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008845.2:p.Glu225Ter",
        "hgvsWellDefined": "NP_008845.2:p.Glu225_Lys459delinsThrCysGlnTyrThrMetGluGluLeuHisGlnLeuAlaTrpGlnThrHisThrTyrGluGluIleLysAlaTyrGlnSerLysSerArgGluAlaLeuTrpGlnGlnCysAlaIleGlnIleThrHisAlaIleGlnTyrValValGluPheAlaLysArgIleThrGlyPheMetGluLeuCysGlnAsnAspGlnIleLeuLeuLeuLysSerGlyCysLeuGluValValLeuValArgMetCysArgAlaPheAsnProLeuAsnAsnThrValLeuPheGluGlyLysTyrGlyGlyMetGlnMetPheLysAlaLeuGlySerAspAspLeuValAsnGluAlaPheAspPheAlaLysAsnLeuCysSerLeuGlnLeuThrGluGluGluIleAlaLeuPheSerSerAlaValLeuIleSerProAspArgAlaTrpLeuIleGluProArgLysValGlnLysLeuGlnGluLysIleTyrPheAlaLeuGlnHisValIleGlnLysAsnHisLeuAspAspGluThrLeuAlaLysLeuIleAlaLysIleProThrIleThrAlaValCysAsnLeuHisGlyGluLysLeuGlnValPheLysGlnSerHisProGluIleValAsnThrLeuPheProProLeuTyrLysGluLeuPheAsnProAspCysAlaThrGlyCysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376896.8:c.673G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006914.4:c.673G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366093.2:p.Glu225Ter"
          },
          "RefSeq": {
            "hgvs": "NP_008845.2:p.Glu225Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}