{
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  "@id": "http://reg.genome.network/allele/CA16042784",
  "communityStandardTitle": [
    "NM_181486.4(TBX5):c.670C>T (p.Gln224Ter)"
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        "preferredName": "NM_181486.4(TBX5):c.670C>T (p.Gln224Ter)"
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372527",
        "RCV": [
          "RCV000413700"
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        "variationId": 372527
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.114823366G>A?assembly=hg19",
        "id": "chr12:g.114823366G>A"
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.114385561G>A?assembly=hg38",
        "id": "chr12:g.114385561G>A"
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517833",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
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      "referenceGenome": "GRCh37",
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    {
      "chromosome": "12",
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS754125",
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        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS256351"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262614"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280350"
    },
    {
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        "hgvsWellDefined": "ENSP00000433292.1:p.Gln224_Gly349delinsLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGlyGluCysAspHisProTrpSerIleCysPheLeuSerTyrLeuPheLeuSerLeuGlyTrpGlyTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS352310"
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006254"
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040256"
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      "@id": "http://reg.genome.network/allele/PA916077571",
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        "hgvsWellDefined": "NP_852259.1:p.Gln224_Ser518delinsLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043729"
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    {
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        "hgvsWellDefined": "XP_016875401.1:p.Gln240_Ser534delinsLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS571492"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077571",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_852259.1:p.Gln224Ter",
        "hgvsWellDefined": "NP_852259.1:p.Gln224_Ser518delinsLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700954",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000405440.7:c.670C>T"
          },
          "RefSeq": {
            "hgvs": "NM_181486.4:c.670C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384152.3:p.Gln224Ter"
          },
          "RefSeq": {
            "hgvs": "NP_852259.1:p.Gln224Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830161054",
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011604",
      "geneNCBI_id": 6910,
      "geneSymbol": "TBX5",
      "hgvs": [
        "NM_080717.4:c.520C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542448.1:p.Gln174Ter",
        "hgvsWellDefined": "NP_542448.1:p.Gln174_Ser468delinsLeuLysIleGluAsnAsnProPheAlaLysGlyPheArgGlySerAspAspMetGluLeuHisArgMetSerArgMetGlnSerLysGluTyrProValValProArgSerThrValArgGlnLysValAlaSerAsnHisSerProPheSerSerGluSerArgAlaLeuSerThrSerSerAsnLeuGlySerGlnTyrGlnCysGluAsnGlyValSerGlyProSerGlnAspLeuLeuProProProAsnProTyrProLeuProGlnGluHisSerGlnIleTyrHisCysThrLysArgLysGluGluGluCysSerThrThrAspHisProTyrLysLysProTyrMetGluThrSerProSerGluGluAspSerPheTyrArgSerSerTyrProGlnGlnGlnGlyLeuGlyAlaSerTyrArgThrGluSerAlaGlnArgGlnAlaCysMetTyrAlaSerSerAlaProProSerGluProValProSerLeuGluAspIleSerCysAsnThrTrpProSerMetProSerTyrSerSerCysThrValThrThrValGlnProMetAspArgLeuProTyrGlnHisPheSerAlaHisPheThrSerGlyProLeuValProArgLeuAlaGlyMetAlaAsnHisGlySerProGlnLeuGlyGluGlyMetPheGlnHisGlnThrSerValAlaHisGlnProValValArgGlnCysGlyProGlnThrGlyLeuGlnSerProGlyThrLeuGlnProProGluPheLeuTyrSerHisGlyValProArgThrLeuSerProHisGlnTyrHisSerValHisGlyValGlyMetValProGluTrpSerAspAsnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729060"
    }
  ],
  "type": "nucleotide"
}