{
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  "communityStandardTitle": [
    "NM_000132.4(F8):c.6355C>T (p.Gln2119Ter)"
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        "RCV": [
          "RCV001265086"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/2072977865",
        "rs": 2072977865
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      "coordinates": [
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          "start": 154896150
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
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      "coordinates": [
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "X",
      "coordinates": [
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      "referenceGenome": "NCBI36",
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    },
    {
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          "referenceAllele": "C",
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      "referenceSequence": "http://reg.genome.network/refseq/RS733325"
    }
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      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749292",
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265065"
    },
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        {
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          "end": 6526,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_000123.1:p.Gln2119_Tyr2351delinsPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006194"
    },
    {
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098167"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139670567",
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          "end": 6526,
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      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_000123.1:p.Gln2119_Tyr2351delinsPheIleIleMetTyrSerLeuAspGlyLysLysTrpGlnThrTyrArgGlyAsnSerThrGlyThrLeuMetValPhePheGlyAsnValAspSerSerGlyIleLysHisAsnIlePheAsnProProIleIleAlaArgTyrIleArgLeuHisProThrHisTyrSerIleArgSerThrLeuArgMetGluLeuMetGlyCysAspLeuAsnSerCysSerMetProLeuGlyMetGluSerLysAlaIleSerAspAlaGlnIleThrAlaSerSerTyrPheThrAsnMetPheAlaThrTrpSerProSerLysAlaArgLeuHisLeuGlnGlyArgSerAsnAlaTrpArgProGlnValAsnAsnProLysGluTrpLeuGlnValAspPheGlnLysThrMetLysValThrGlyValThrThrGlnGlyValLysSerLeuLeuThrSerMetTyrValLysGluPheLeuIleSerSerSerGlnAspGlyHisGlnTrpThrLeuPhePheGlnAsnGlyLysValLysValPheGlnGlyAsnGlnAspSerPheThrProValValAsnSerLeuAspProProLeuLeuThrArgTyrLeuArgIleHisProGlnSerTrpValHisGlnIleAlaLeuArgMetGluValLeuGlyCysGluAlaGlnAspLeuTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360256.9:c.6355C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000132.4:c.6355C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Gln2119Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Gln2119Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}