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  "communityStandardTitle": [
    "NM_002834.5(PTPN11):c.763C>T (p.Gln255Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3220858",
        "RCV": [
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        "variationId": 3220858
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        "@id": "http://myvariant.info/v1/variant/chr12:g.112910754C>T?assembly=hg19",
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      "referenceSequence": "http://reg.genome.network/refseq/RS831323"
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      "referenceSequence": "http://reg.genome.network/refseq/RS831714"
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        "maneVersion": "1.3",
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      "referenceSequence": "http://reg.genome.network/refseq/RS275191"
    },
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      "coordinates": [
        {
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      "proteinEffect": {
        "hgvs": "ENSP00000489597.1:p.Gln255Ter",
        "hgvsWellDefined": "ENSP00000489597.1:p.Gln257_Arg597delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408196"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829384857",
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_002834.3:c.763C>T",
        "LRG_614t1:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002825.3:p.Gln255Ter",
        "hgvsWellDefined": "NP_002825.3:p.Gln257_Arg593delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028120"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830157399",
      "coordinates": [
        {
          "allele": "T",
          "end": 1143,
          "referenceAllele": "C",
          "start": 1142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_080601.1:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542168.1:p.Gln255Ter",
        "hgvsWellDefined": "NP_542168.1:p.Gln257_Arg460delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "referenceAllele": "C",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_006719526.1:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719589.1:p.Gln255Ter",
        "hgvsWellDefined": "XP_006719589.1:p.Gln257_Arg597delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_006719527.1:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719590.1:p.Gln217Ter",
        "hgvsWellDefined": "XP_006719590.1:p.Gln219_Arg559delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_011538613.1:c.760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536915.1:p.Gln254Ter",
        "hgvsWellDefined": "XP_011536915.1:p.Gln256_Arg596delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827313067",
      "coordinates": [
        {
          "allele": "T",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_001330437.1:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317366.1:p.Gln255Ter",
        "hgvsWellDefined": "NP_001317366.1:p.Gln257_Arg597delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516816"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829384857",
      "coordinates": [
        {
          "allele": "T",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_002834.4:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002825.3:p.Gln255Ter",
        "hgvsWellDefined": "NP_002825.3:p.Gln257_Arg593delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525035"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830157399",
      "coordinates": [
        {
          "allele": "T",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_080601.2:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542168.1:p.Gln255Ter",
        "hgvsWellDefined": "NP_542168.1:p.Gln257_Arg460delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 957,
          "referenceAllele": "C",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_011538613.2:c.760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536915.1:p.Gln254Ter",
        "hgvsWellDefined": "XP_011536915.1:p.Gln256_Arg596delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_017019722.1:c.760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875211.1:p.Gln254Ter",
        "hgvsWellDefined": "XP_016875211.1:p.Gln256_Arg592delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827313067",
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "referenceAllele": "C",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_001330437.2:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317366.1:p.Gln255Ter",
        "hgvsWellDefined": "NP_001317366.1:p.Gln257_Arg597delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828530561",
      "coordinates": [
        {
          "allele": "T",
          "end": 925,
          "referenceAllele": "C",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_001374625.1:c.760C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361554.1:p.Gln254Ter",
        "hgvsWellDefined": "NP_001361554.1:p.Gln256_Arg592delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693332"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829384857",
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "referenceAllele": "C",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_002834.5:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002825.3:p.Gln255Ter",
        "hgvsWellDefined": "NP_002825.3:p.Gln257_Arg593delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000351677.7:c.763C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002834.5:c.763C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340944.3:p.Gln255Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002825.3:p.Gln255Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830157399",
      "coordinates": [
        {
          "allele": "T",
          "end": 928,
          "referenceAllele": "C",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_080601.3:c.763C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542168.1:p.Gln255Ter",
        "hgvsWellDefined": "NP_542168.1:p.Gln257_Arg460delinsGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699517"
    }
  ],
  "type": "nucleotide"
}