{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386784198",
  "communityStandardTitle": [
    "NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1401649[alleleid]",
        "alleleId": 1401649,
        "preferredName": "NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1367799",
        "RCV": [
          "RCV001964503",
          "RCV002503431"
        ],
        "variationId": 1367799
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.112893802C>T?assembly=hg19",
        "id": "chr12:g.112893802C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.112455998C>T?assembly=hg38",
        "id": "chr12:g.112455998C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2038154558",
        "rs": 2038154558
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-112455998-C-T?dataset=gnomad_r4",
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        "variant": "12:112455998 C / T"
      }
    ]
  },
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    {
      "chromosome": "12",
      "coordinates": [
        {
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          "referenceAllele": "C",
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      ],
      "hgvs": [
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        "CM000674.2:g.112455998C>T"
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "12",
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          "start": 112893801
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    },
    {
      "chromosome": "12",
      "coordinates": [
        {
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          "end": 111378185,
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
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          "end": 42267,
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          "start": 42266
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        "LRG_614:g.42267C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000585"
    }
  ],
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS826691"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 843,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
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          "start": 843,
          "startIntronDirection": "+",
          "startIntronOffset": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509536.1:n.642+1318C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS831323"
    },
    {
      "coordinates": [
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      ],
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      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000688597.1:c.691C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000510628.1:p.Arg231_Arg468delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831714"
    },
    {
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        {
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
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      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000692624.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508953.1:p.Arg231Ter",
        "hgvsWellDefined": "ENSP00000508953.1:p.Arg231_Cys461delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 855
        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000340944.3:p.Arg231_Arg593delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748469",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000351677.7:c.691C>T"
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          "RefSeq": {
            "hgvs": "NM_002834.5:c.691C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340944.3:p.Arg231Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002825.3:p.Arg231Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 889,
          "referenceAllele": "C",
          "start": 888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340944.2:p.Arg231Ter",
        "hgvsWellDefined": "ENSP00000340944.2:p.Arg231_Arg593delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
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      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000392597.5:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376376.1:p.Arg231Ter",
        "hgvsWellDefined": "ENSP00000376376.1:p.Arg231_Arg460delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "referenceAllele": "C",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000530818.1:c.225C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS356013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "ENST00000635625.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489597.1:p.Arg231Ter",
        "hgvsWellDefined": "ENSP00000489597.1:p.Arg231_Arg597delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS408196"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829384833",
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_002834.3:c.691C>T",
        "LRG_614t1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002825.3:p.Arg231Ter",
        "hgvsWellDefined": "NP_002825.3:p.Arg231_Arg593delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028120"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573298308",
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_080601.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542168.1:p.Arg231Ter",
        "hgvsWellDefined": "NP_542168.1:p.Arg231_Arg460delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "C",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_006719526.1:c.691C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_006719589.1:p.Arg231_Arg597delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 807,
          "endIntronDirection": "+",
          "endIntronOffset": 1318,
          "referenceAllele": "C",
          "start": 807,
          "startIntronDirection": "+",
          "startIntronOffset": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_006719527.1:c.642+1318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719590.1:n.642+1318C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "C",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_011538613.1:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536915.1:p.Arg230Ter",
        "hgvsWellDefined": "XP_011536915.1:p.Arg230_Arg596delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105568"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827313050",
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_001330437.1:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317366.1:p.Arg231Ter",
        "hgvsWellDefined": "NP_001317366.1:p.Arg231_Arg597delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516816"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829384833",
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_002834.4:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002825.3:p.Arg231Ter",
        "hgvsWellDefined": "NP_002825.3:p.Arg231_Arg593delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525035"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573298308",
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_080601.2:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542168.1:p.Arg231Ter",
        "hgvsWellDefined": "NP_542168.1:p.Arg231_Arg460delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 885,
          "referenceAllele": "C",
          "start": 884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_011538613.2:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011536915.1:p.Arg230Ter",
        "hgvsWellDefined": "XP_011536915.1:p.Arg230_Arg596delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "C",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "XM_017019722.1:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875211.1:p.Arg230Ter",
        "hgvsWellDefined": "XP_016875211.1:p.Arg230_Arg592delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827313050",
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "C",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_001330437.2:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317366.1:p.Arg231Ter",
        "hgvsWellDefined": "NP_001317366.1:p.Arg231_Arg597delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnAlaLeuLeuGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828530550",
      "coordinates": [
        {
          "allele": "T",
          "end": 853,
          "referenceAllele": "C",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_001374625.1:c.688C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361554.1:p.Arg230Ter",
        "hgvsWellDefined": "NP_001361554.1:p.Arg230_Arg592delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693332"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829384833",
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "C",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_002834.5:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002825.3:p.Arg231Ter",
        "hgvsWellDefined": "NP_002825.3:p.Arg231_Arg593delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysSerAlaGlyIleGlyArgThrGlyThrPheIleValIleAspIleLeuIleAspIleIleArgGluLysGlyValAspCysAspIleAspValProLysThrIleGlnMetValArgSerGlnArgSerGlyMetValGlnThrGluAlaGlnTyrArgPheIleTyrMetAlaValGlnHisTyrIleGluThrLeuGlnArgArgIleGluGluGluGlnLysSerLysArgLysGlyHisGluTyrThrAsnIleLysTyrSerLeuAlaAspGlnThrSerGlyAspGlnSerProLeuProProCysThrProThrProProCysAlaGluMetArgGluAspSerAlaArgValTyrGluAsnValGlyLeuMetGlnGlnGlnLysSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695648",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000351677.7:c.691C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002834.5:c.691C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340944.3:p.Arg231Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002825.3:p.Arg231Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573298308",
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "C",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009644",
      "geneNCBI_id": 5781,
      "geneSymbol": "PTPN11",
      "hgvs": [
        "NM_080601.3:c.691C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_542168.1:p.Arg231Ter",
        "hgvsWellDefined": "NP_542168.1:p.Arg231_Arg460delinsGluLeuSerLysLeuAlaGluThrThrAspLysValLysGlnGlyPheTrpGluGluPheGluThrLeuGlnGlnGlnGluCysLysLeuLeuTyrSerArgLysGluGlyGlnArgGlnGluAsnLysAsnLysAsnArgTyrLysAsnIleLeuProPheAspHisThrArgValValLeuHisAspGlyAspProAsnGluProValSerAspTyrIleAsnAlaAsnIleIleMetProGluPheGluThrLysCysAsnAsnSerLysProLysLysSerTyrIleAlaThrGlnGlyCysLeuGlnAsnThrValAsnAspPheTrpArgMetValPheGlnGluAsnSerArgValIleValMetThrThrLysGluValGluArgGlyLysSerLysCysValLysTyrTrpProAspGluTyrAlaLeuLysGluTyrGlyValMetArgValArgAsnValLysGluSerAlaAlaHisAspTyrThrLeuArgGluLeuLysLeuSerLysValGlyGlnGlyAsnThrGluArgThrValTrpGlnTyrHisPheArgThrTrpProAspHisGlyValProSerAspProGlyGlyValLeuAspPheLeuGluGluValHisHisLysGlnGluSerIleMetAspAlaGlyProValValValHisCysArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699517"
    }
  ],
  "type": "nucleotide"
}