{
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  "@id": "http://reg.genome.network/allele/CA2695237113",
  "communityStandardTitle": [
    "NM_000132.4(F8):c.6953_6956dup (p.Leu2320ThrfsTer?)"
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          "referenceAllele": "",
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
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        {
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          "referenceAllele": "",
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      ],
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        "CM000685.1:g.154065975_154065978dup"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
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          "referenceAllele": "",
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      ],
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
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          "referenceAllele": "",
          "start": 190027
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      ],
      "hgvs": [
        "NG_011403.1:g.190024_190027dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001709"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "",
          "start": 1966
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      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS005397"
    },
    {
      "coordinates": [
        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS733325"
    }
  ],
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          "referenceAllele": "",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749292",
      "MANE": {
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        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000360256.9:c.6953_6956dup"
          },
          "RefSeq": {
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          }
        },
        "protein": {
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          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Leu2320ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
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      "geneSymbol": "F8",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495706.1:p.Leu231ThrfsTer?",
        "hgvsWellDefined": "ENSP00000495706.1:p.[Leu231_Leu232delinsThrVal;Arg234_Tyr235delinsAspSer;Arg237_Gln241delinsProSerAsn;Trp243_Ile247delinsProProGluLeuGly;Leu249_Met251delinsProAspCysPro;Val253_Leu254delinsAspGly;Cys256_Gln259delinsSerGlyLeuArgGlyThrGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767949"
    },
    {
      "coordinates": [
        {
          "allele": "CCAC",
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          "referenceAllele": "",
          "start": 711
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      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000330287.10:c.548_551dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327895.6:p.Leu185ThrfsTer?",
        "hgvsWellDefined": "ENSP00000327895.6:p.[Leu185_Leu186delinsThrVal;Arg188_Tyr189delinsAspSer;Arg191_Gln195delinsProSerAsn;Trp197_Ile201delinsProProGluLeuGly;Leu203_Met205delinsProAspCysPro;Val207_Leu208delinsAspGly;Cys210_Gln213delinsSerGlyLeuArgGlyThrGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259212"
    },
    {
      "coordinates": [
        {
          "allele": "CCAC",
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          "referenceAllele": "",
          "start": 7157
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      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "ENST00000360256.8:c.6953_6956dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353393.4:p.Leu2320ThrfsTer?",
        "hgvsWellDefined": "ENSP00000353393.4:p.[Leu2320_Leu2321delinsThrVal;Arg2323_Tyr2324delinsAspSer;Arg2326_Gln2330delinsProSerAsn;Trp2332_Ile2336delinsProProGluLeuGly;Leu2338_Met2340delinsProAspCysPro;Val2342_Leu2343delinsAspGly;Cys2345_Gln2348delinsSerGlyLeuArgGlyThrGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265065"
    },
    {
      "coordinates": [
        {
          "allele": "CCAC",
          "end": 7127,
          "referenceAllele": "",
          "start": 7127
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      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.3:c.6953_6956dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Leu2320ThrfsTer?",
        "hgvsWellDefined": "NP_000123.1:p.[Leu2320_Leu2321delinsThrVal;Arg2323_Tyr2324delinsAspSer;Arg2326_Gln2330delinsProSerAsn;Trp2332_Ile2336delinsProProGluLeuGly;Leu2338_Met2340delinsProAspCysPro;Val2342_Leu2343delinsAspGly;Cys2345_Gln2348delinsSerGlyLeuArgGlyThrGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006194"
    },
    {
      "coordinates": [
        {
          "allele": "CCAC",
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          "referenceAllele": "",
          "start": 696
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      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_019863.2:c.548_551dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_063916.1:p.Leu185ThrfsTer?",
        "hgvsWellDefined": "NP_063916.1:p.[Leu185_Leu186delinsThrVal;Arg188_Tyr189delinsAspSer;Arg191_Gln195delinsProSerAsn;Trp197_Ile201delinsProProGluLeuGly;Leu203_Met205delinsProAspCysPro;Val207_Leu208delinsAspGly;Cys210_Gln213delinsSerGlyLeuArgGlyThrGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036160"
    },
    {
      "coordinates": [
        {
          "allele": "CCAC",
          "end": 6968,
          "referenceAllele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "XM_011531126.1:c.6848_6851dup"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529428.1:p.Leu2285ThrfsTer?",
        "hgvsWellDefined": "XP_011529428.1:p.[Leu2285_Leu2286delinsThrVal;Arg2288_Tyr2289delinsAspSer;Arg2291_Gln2295delinsProSerAsn;Trp2297_Ile2301delinsProProGluLeuGly;Leu2303_Met2305delinsProAspCysPro;Val2307_Leu2308delinsAspGly;Cys2310_Gln2313delinsSerGlyLeuArgGlyThrGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098167"
    },
    {
      "coordinates": [
        {
          "allele": "CCAC",
          "end": 7127,
          "referenceAllele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_000132.4:c.6953_6956dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000123.1:p.Leu2320ThrfsTer?",
        "hgvsWellDefined": "NP_000123.1:p.[Leu2320_Leu2321delinsThrVal;Arg2323_Tyr2324delinsAspSer;Arg2326_Gln2330delinsProSerAsn;Trp2332_Ile2336delinsProProGluLeuGly;Leu2338_Met2340delinsProAspCysPro;Val2342_Leu2343delinsAspGly;Cys2345_Gln2348delinsSerGlyLeuArgGlyThrGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          },
          "RefSeq": {
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          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353393.4:p.Leu2320ThrfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000123.1:p.Leu2320ThrfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN003546",
      "geneNCBI_id": 2157,
      "geneSymbol": "F8",
      "hgvs": [
        "NM_019863.3:c.548_551dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_063916.1:p.Leu185ThrfsTer?",
        "hgvsWellDefined": "NP_063916.1:p.[Leu185_Leu186delinsThrVal;Arg188_Tyr189delinsAspSer;Arg191_Gln195delinsProSerAsn;Trp197_Ile201delinsProProGluLeuGly;Leu203_Met205delinsProAspCysPro;Val207_Leu208delinsAspGly;Cys210_Gln213delinsSerGlyLeuArgGlyThrGly]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728406"
    }
  ],
  "type": "nucleotide"
}