{
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  "@id": "http://reg.genome.network/allele/CA280134",
  "communityStandardTitle": [
    "NM_001024630.4(RUNX2):c.891G>A (p.Trp297Ter)"
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      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9296",
        "RCV": [
          "RCV000009879"
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      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.45512277G>A?assembly=hg38",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/104893988",
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        "maneStatus": "MANE Select",
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            "hgvs": "NM_001024630.4:c.891G>A"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264815"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268576"
    },
    {
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268578"
    },
    {
      "coordinates": [
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          "start": 1248
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000360493.1:p.Trp297_Tyr521delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268580"
    },
    {
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000420707.2:p.Trp297_Tyr521delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
          "start": 1215
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      ],
      "gene": "http://reg.genome.network/gene/GN010472",
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      "geneSymbol": "RUNX2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000460188.1:p.Trp225_Arg276delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAlaArgSerArgTyrSerLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319220"
    },
    {
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      ],
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      "hgvs": [
        "ENST00000483377.5:c.*412G>A"
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      "proteinEffect": {
        "hgvs": "ENSP00000461357.1:n.*412G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS322859"
    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN010472",
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      "geneSymbol": "RUNX2",
      "hgvs": [
        "ENST00000576263.5:c.891G>A"
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      "proteinEffect": {
        "hgvs": "ENSP00000458178.1:p.Trp297Ter",
        "hgvsWellDefined": "ENSP00000458178.1:p.Trp297_Asn542delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspSerGluProSerThrLeuAspSerGlnSerSerThrThrLeuPheLeuSerSerGluGluProGlyProSerThrAlaAlaLeuProSerProSerSerSerSerCysGluProGlnAlaPheSerProGlyProProAlaLeuProProLeuLeuProProLeuProAlaAlaSerAlaProProGlyProGlyAlaSerArgArgThrGlyArgTyrSerValValAlaSerSerProGluAlaAlaProArgLeuValAspTrpLeuProGlyCysProSerThrIleSerProSerThrArgGlyAspAspLysGluArgProProProValLeuAlaProAlaGluGlyProGluArgSerArgAlaProArgProSerThrAlaGlyArgGluGluGlyThrValAspAlaGlyThrSerProProProArgAlaArgProAlaAlaAlaAlaSerLeuGluAlaHisValGlyAspIleLeuValGluLeuArgThrMetAsnGlyHisLeuAspSerIleAlaArgAlaLeuThrLysLeuAlaSerSerLeuGlyProGlnProGluProLeuProAspValSerAspAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384416"
    },
    {
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      "geneNCBI_id": 860,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000485863.1:p.Trp283Ter",
        "hgvsWellDefined": "ENSP00000485863.1:p.Trp283_Tyr485delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406646"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825312985",
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          "allele": "A",
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      "gene": "http://reg.genome.network/gene/GN010472",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001015051.3:p.Trp297Ter",
        "hgvsWellDefined": "NP_001015051.3:p.Trp297_Tyr499delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008530"
    },
    {
      "@id": "http://reg.genome.network/allele/PA280135",
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          "allele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN010472",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001019801.3:p.Trp297Ter",
        "hgvsWellDefined": "NP_001019801.3:p.Trp297_Tyr521delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826602267",
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      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "NM_001278478.1:c.849G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265407.1:p.Trp283Ter",
        "hgvsWellDefined": "NP_001265407.1:p.Trp283_Tyr485delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021312"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 678,
          "referenceAllele": "G",
          "start": 677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_006715232.1:c.675G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715295.1:p.Trp225Ter",
        "hgvsWellDefined": "XP_006715295.1:p.Trp225_Tyr449delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1615,
          "referenceAllele": "G",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514960.1:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513262.1:p.Trp365Ter",
        "hgvsWellDefined": "XP_011513262.1:p.Trp365_Asn610delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspSerGluProSerThrLeuAspSerGlnSerSerThrThrLeuPheLeuSerSerGluGluProGlyProSerThrAlaAlaLeuProSerProSerSerSerSerCysGluProGlnAlaPheSerProGlyProProAlaLeuProProLeuLeuProProLeuProAlaAlaSerAlaProProGlyProGlyAlaSerArgArgThrGlyArgTyrSerValValAlaSerSerProGluAlaAlaProArgLeuValAspTrpLeuProGlyCysProSerThrIleSerProSerThrArgGlyAspAspLysGluArgProProProValLeuAlaProAlaGluGlyProGluArgSerArgAlaProArgProSerThrAlaGlyArgGluGluGlyThrValAspAlaGlyThrSerProProProArgAlaArgProAlaAlaAlaAlaSerLeuGluAlaHisValGlyAspIleLeuValGluLeuArgThrMetAsnGlyHisLeuAspSerIleAlaArgAlaLeuThrLysLeuAlaSerSerLeuGlyProGlnProGluProLeuProAspValSerAspAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1246,
          "referenceAllele": "G",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514961.1:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513263.1:p.Trp365Ter",
        "hgvsWellDefined": "XP_011513263.1:p.Trp365_Tyr589delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1246,
          "referenceAllele": "G",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514962.1:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513264.1:p.Trp365Ter",
        "hgvsWellDefined": "XP_011513264.1:p.Trp365_Tyr567delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514963.1:c.921G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513265.1:p.Trp307Ter",
        "hgvsWellDefined": "XP_011513265.1:p.Trp307_Asn552delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspSerGluProSerThrLeuAspSerGlnSerSerThrThrLeuPheLeuSerSerGluGluProGlyProSerThrAlaAlaLeuProSerProSerSerSerSerCysGluProGlnAlaPheSerProGlyProProAlaLeuProProLeuLeuProProLeuProAlaAlaSerAlaProProGlyProGlyAlaSerArgArgThrGlyArgTyrSerValValAlaSerSerProGluAlaAlaProArgLeuValAspTrpLeuProGlyCysProSerThrIleSerProSerThrArgGlyAspAspLysGluArgProProProValLeuAlaProAlaGluGlyProGluArgSerArgAlaProArgProSerThrAlaGlyArgGluGluGlyThrValAspAlaGlyThrSerProProProArgAlaArgProAlaAlaAlaAlaSerLeuGluAlaHisValGlyAspIleLeuValGluLeuArgThrMetAsnGlyHisLeuAspSerIleAlaArgAlaLeuThrLysLeuAlaSerSerLeuGlyProGlnProGluProLeuProAspValSerAspAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1604,
          "referenceAllele": "G",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514964.1:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513266.1:p.Trp365Ter",
        "hgvsWellDefined": "XP_011513266.1:p.Trp365_Phe508delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyHisProAlaLeuGlnAspSerValTrpGlySerTrpThrCysAlaSerCysLeuGlyValSerLeuGlyIleHisProAspSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1605,
          "referenceAllele": "G",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514965.1:c.1095G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513267.1:p.Trp365Ter",
        "hgvsWellDefined": "XP_011513267.1:p.Trp365_Arg416delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAlaArgSerArgTyrSerLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082186"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XM_011514966.1:c.423G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011513268.1:p.Trp141Ter",
        "hgvsWellDefined": "XP_011513268.1:p.Trp141_Asn386delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspSerGluProSerThrLeuAspSerGlnSerSerThrThrLeuPheLeuSerSerGluGluProGlyProSerThrAlaAlaLeuProSerProSerSerSerSerCysGluProGlnAlaPheSerProGlyProProAlaLeuProProLeuLeuProProLeuProAlaAlaSerAlaProProGlyProGlyAlaSerArgArgThrGlyArgTyrSerValValAlaSerSerProGluAlaAlaProArgLeuValAspTrpLeuProGlyCysProSerThrIleSerProSerThrArgGlyAspAspLysGluArgProProProValLeuAlaProAlaGluGlyProGluArgSerArgAlaProArgProSerThrAlaGlyArgGluGluGlyThrValAspAlaGlyThrSerProProProArgAlaArgProAlaAlaAlaAlaSerLeuGluAlaHisValGlyAspIleLeuValGluLeuArgThrMetAsnGlyHisLeuAspSerIleAlaArgAlaLeuThrLysLeuAlaSerSerLeuGlyProGlnProGluProLeuProAspValSerAspAlaAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1689,
          "referenceAllele": "G",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "XR_926323.1:n.1689G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA280135",
      "coordinates": [
        {
          "allele": "A",
          "end": 1088,
          "referenceAllele": "G",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "NM_001024630.4:c.891G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001019801.3:p.Trp297Ter",
        "hgvsWellDefined": "NP_001019801.3:p.Trp297_Tyr521delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662993",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647337.2:c.891G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001024630.4:c.891G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495497.1:p.Trp297Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001019801.3:p.Trp297Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826602267",
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "referenceAllele": "G",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "NM_001278478.2:c.849G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265407.1:p.Trp283Ter",
        "hgvsWellDefined": "NP_001265407.1:p.Trp283_Tyr485delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828329173",
      "coordinates": [
        {
          "allele": "A",
          "end": 1151,
          "referenceAllele": "G",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "NM_001369405.1:c.849G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356334.1:p.Trp283Ter",
        "hgvsWellDefined": "NP_001356334.1:p.Trp283_Tyr507delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerAspAspAspThrAlaThrSerAspPheCysLeuTrpProSerThrLeuSerLysLysSerGlnAlaGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825312985",
      "coordinates": [
        {
          "allele": "A",
          "end": 1088,
          "referenceAllele": "G",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010472",
      "geneNCBI_id": 860,
      "geneSymbol": "RUNX2",
      "hgvs": [
        "NM_001015051.4:c.891G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001015051.3:p.Trp297Ter",
        "hgvsWellDefined": "NP_001015051.3:p.Trp297_Tyr499delinsSerTyrAspGlnSerTyrProSerTyrLeuSerGlnMetThrSerProSerIleHisSerThrThrProLeuSerSerThrArgGlyThrGlyLeuProAlaIleThrAspValProArgArgIleSerGlyAlaSerGluLeuGlyProPheSerAspProArgGlnPheProSerIleSerSerLeuThrGluSerArgPheSerAsnProArgMetHisTyrProAlaThrPheThrTyrThrProProValThrSerGlyMetSerLeuGlyMetSerAlaThrThrHisTyrHisThrTyrLeuProProProTyrProGlySerSerGlnSerGlnSerGlyProPheGlnThrSerSerThrProTyrLeuTyrTyrGlyThrSerSerGlySerTyrGlnPheProMetValProGlyGlyAspArgSerProSerArgMetLeuProProCysThrThrThrSerAsnGlySerThrLeuLeuAsnProAsnLeuProAsnGlnAsnAspGlyValAspAlaAspGlySerHisSerSerSerProThrValLeuAsnSerSerGlyArgMetAspGluSerValTrpArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711368"
    }
  ],
  "type": "nucleotide"
}