{
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  "@id": "http://reg.genome.network/allele/CA008822",
  "communityStandardTitle": [
    "NM_000238.4(KCNH2):c.809_812delinsAAAAGC (p.Thr270LysfsTer?)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/200614",
        "RCV": [
          "RCV001842844"
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      }
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        "id": "chr7:g.150655251_150655254delinsGCTTTT"
      }
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        "@id": "http://myvariant.info/v1/variant/chr7:g.150958163_150958166delinsGCTTTT?assembly=hg38",
        "id": "chr7:g.150958163_150958166delinsGCTTTT"
      }
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      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
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    }
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      "referenceSequence": "http://reg.genome.network/refseq/RS247143"
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    {
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000387657.4:p.Thr154LysfsTer?",
        "hgvsWellDefined": "ENSP00000387657.4:p.[Thr154_Arg157delinsLysLysProPro;Ser159_Cys160delinsLysAla;Ser162_Arg165delinsProAlaCysAla;Ser167_Arg176delinsProArgArgProThrThrSerArgProCys;Ala177_Gly178insPro;Val179_Leu180delinsCysCys;Pro182_Pro184delinsArgHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247335"
    },
    {
      "coordinates": [
        {
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      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS357796"
    },
    {
      "coordinates": [
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          "referenceAllele": "CGCG",
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      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
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        "LRG_288t1:c.809_812delinsAAAAGC"
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      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Thr270LysfsTer?",
        "hgvsWellDefined": "NP_000229.1:p.[Thr270_Arg273delinsLysLysProPro;Ser275_Cys276delinsLysAla;Ser278_Arg281delinsProAlaCysAla;Ser283_Arg292delinsProArgArgProThrThrSerArgProCys;Ala293_Gly294insPro;Val295_Leu296delinsCysCys;Pro298_Pro300delinsArgHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006301"
    },
    {
      "coordinates": [
        {
          "allele": "AAAAGC",
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          "referenceAllele": "CGCG",
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      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
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      "hgvs": [
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        "LRG_288t2:c.809_812delinsAAAAGC"
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      "proteinEffect": {
        "hgvs": "NP_742053.1:p.Thr270LysfsTer?",
        "hgvsWellDefined": "NP_742053.1:p.[Thr270_Arg273delinsLysLysProPro;Ser275_Cys276delinsLysAla;Ser278_Arg281delinsProAlaCysAla;Ser283_Arg292delinsProArgArgProThrThrSerArgProCys;Ala293_Gly294insPro;Val295_Leu296delinsCysCys;Pro298_Pro300delinsArgHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042625"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Thr170LysfsTer?",
        "hgvsWellDefined": "XP_011514487.1:p.[Thr170_Arg173delinsLysLysProPro;Ser175_Cys176delinsLysAla;Ser178_Arg181delinsProAlaCysAla;Ser183_Arg192delinsProArgArgProThrThrSerArgProCys;Ala193_Gly194insPro;Val195_Leu196delinsCysCys;Pro198_Pro200delinsArgHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083388"
    },
    {
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      "gene": "http://reg.genome.network/gene/GN006251",
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      "proteinEffect": {
        "hgvs": "XP_011514488.1:p.Thr270LysfsTer?",
        "hgvsWellDefined": "XP_011514488.1:p.[Thr270_Arg273delinsLysLysProPro;Ser275_Cys276delinsLysAla;Ser278_Arg281delinsProAlaCysAla;Ser283_Arg292delinsProArgArgProThrThrSerArgProCys;Ala293_Gly294insPro;Val295_Leu296delinsCysCys;Pro298_Pro300delinsArgHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083389"
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011514487.1:p.Thr170LysfsTer?",
        "hgvsWellDefined": "XP_011514487.1:p.[Thr170_Arg173delinsLysLysProPro;Ser175_Cys176delinsLysAla;Ser178_Arg181delinsProAlaCysAla;Ser183_Arg192delinsProArgArgProThrThrSerArgProCys;Ala193_Gly194insPro;Val195_Leu196delinsCysCys;Pro198_Pro200delinsArgHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544060"
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    {
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          "referenceAllele": "CGCG",
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      "gene": "http://reg.genome.network/gene/GN006251",
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      "hgvs": [
        "XM_011516186.3:c.809_812delinsAAAAGC"
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      "proteinEffect": {
        "hgvs": "XP_011514488.1:p.Thr270LysfsTer?",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544061"
    },
    {
      "coordinates": [
        {
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      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
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      "hgvs": [
        "XM_017012195.1:c.659_662delinsAAAAGC"
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      "proteinEffect": {
        "hgvs": "XP_016867684.1:p.Thr220LysfsTer?",
        "hgvsWellDefined": "XP_016867684.1:p.[Thr220_Arg223delinsLysLysProPro;Ser225_Cys226delinsLysAla;Ser228_Arg231delinsProAlaCysAla;Ser233_Arg242delinsProArgArgProThrThrSerArgProCys;Ala243_Gly244insPro;Val245_Leu246delinsCysCys;Pro248_Pro250delinsArgHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565851"
    },
    {
      "coordinates": [
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          "referenceAllele": "CGCG",
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      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_016867685.1:p.Thr211LysfsTer?",
        "hgvsWellDefined": "XP_016867685.1:p.[Thr211_Arg214delinsLysLysProPro;Ser216_Cys217delinsLysAla;Ser219_Arg222delinsProAlaCysAla;Ser224_Arg233delinsProArgArgProThrThrSerArgProCys;Ala234_Gly235insPro;Val236_Leu237delinsCysCys;Pro239_Pro241delinsArgHisArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565852"
    },
    {
      "coordinates": [
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      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NM_000238.4:c.809_812delinsAAAAGC"
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      "proteinEffect": {
        "hgvs": "NP_000229.1:p.Thr270LysfsTer?",
        "hgvsWellDefined": "NP_000229.1:p.[Thr270_Arg273delinsLysLysProPro;Ser275_Cys276delinsLysAla;Ser278_Arg281delinsProAlaCysAla;Ser283_Arg292delinsProArgArgProThrThrSerArgProCys;Ala293_Gly294insPro;Val295_Leu296delinsCysCys;Pro298_Pro300delinsArgHisArg]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS674756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          "RefSeq": {
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          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262186.5:p.Thr270LysfsTer?"
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          "RefSeq": {
            "hgvs": "NP_000229.1:p.Thr270LysfsTer?"
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        }
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    }
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  "type": "nucleotide"
}