{
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  "@id": "http://reg.genome.network/allele/CA16043976",
  "communityStandardTitle": [
    "NM_014994.3(MAPKBP1):c.2809C>T (p.Gln937Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361825[alleleid]",
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        "preferredName": "NM_014994.3(MAPKBP1):c.2809C>T (p.Gln937Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374920",
        "RCV": [
          "RCV000415598"
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        "variationId": 374920
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    "MyVariantInfo_hg19": [
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        "@id": "http://myvariant.info/v1/variant/chr15:g.42113872C>T?assembly=hg19",
        "id": "chr15:g.42113872C>T"
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        "@id": "http://myvariant.info/v1/variant/chr15:g.41821674C>T?assembly=hg38",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/752616462",
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      "referenceGenome": "GRCh38",
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    },
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      "coordinates": [
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      "referenceGenome": "GRCh37",
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      "hgvs": [
        "NG_054745.1:g.52241C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS617505"
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      "referenceSequence": "http://reg.genome.network/refseq/RS303638"
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          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS304000"
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      "referenceSequence": "http://reg.genome.network/refseq/RS337182"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS339172"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS342825"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645428849",
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      "referenceSequence": "http://reg.genome.network/refseq/RS011794"
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        "hgvsWellDefined": "NP_001252540.1:p.Gln937_Leu1231delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGluProAlaValSerLeuGluGlnCysGluGlnLeuValAlaGluLeuArgGlySerValArgGlnAlaValArgLeuTyrHisSerValAlaGlyCysLysMetProSerAlaGluGlnSerArgIleAlaGlnLeuLeuArgAspThrPheSerSerValArgGlnGluLeuGluAlaValAlaGlyAlaValLeuSerSerProGlySerSerProGlyAlaValGlyAlaGluGlnThrGlnAlaLeuLeuGluGlnTyrSerGluLeuLeuLeuArgAlaValGluArgArgMetGluArgLysLeuTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS020066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829793119",
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      "proteinEffect": {
        "hgvs": "NP_055809.2:p.Gln937Ter",
        "hgvsWellDefined": "NP_055809.2:p.Gln937_Leu1508delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGlyGluGlnProArgGlyAsnGlyAlaAsnProProGlyAlaProProGluValGluProSerSerGlyAsnProSerProGlnGlnAlaAlaSerValLeuLeuProArgCysArgLeuAsnProAspSerSerTrpAlaProLysArgValAlaThrAlaSerProPheSerGlyLeuGlnLysAlaGlnSerValHisSerLeuValProGlnGluArgHisGluAlaSerLeuGlnAlaProSerProGlyAlaLeuLeuSerArgGluIleGluAlaGlnAspGlyLeuGlySerLeuProProAlaAspGlyArgProSerArgProHisSerTyrGlnAsnProThrThrSerSerMetAlaLysIleSerArgSerIleSerValGlyGluAsnLeuGlyLeuValAlaGluProGlnAlaHisAlaProIleArgValSerProLeuSerLysLeuAlaLeuProSerArgAlaHisLeuValLeuAspIleProLysProLeuProAspArgProThrLeuAlaAlaPheSerProValThrLysGlyArgAlaProGlyGluAlaGluLysProGlyPheProValGlyLeuGlyLysAlaHisSerThrThrGluArgTrpAlaCysLeuGlyGluGlyThrThrProLysProArgThrGluCysGlnAlaHisProGlyProSerSerProCysAlaGlnGlnLeuProValSerSerLeuPheGlnGlyProGluAsnLeuGlnProProProProGluLysThrProAsnProMetGluCysThrLysProGlyAlaAlaLeuSerGlnAspSerGluProAlaValSerLeuGluGlnCysGluGlnLeuValAlaGluLeuArgGlySerValArgGlnAlaValArgLeuTyrHisSerValAlaGlyCysLysMetProSerAlaGluGlnSerArgIleAlaGlnLeuLeuArgAspThrPheSerSerValArgGlnGluLeuGluAlaValAlaGlyAlaValLeuSerSerProGlySerSerProGlyAlaValGlyAlaGluGlnThrGlnAlaLeuLeuGluGlnTyrSerGluLeuLeuLeuArgAlaValGluArgArgMetGluArgLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2905,
          "referenceAllele": "C",
          "start": 2904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NR_049761.1:n.2905C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2856,
          "referenceAllele": "C",
          "start": 2855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NR_049762.1:n.2856C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2912,
          "referenceAllele": "C",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_006720438.1:c.2662C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720501.1:p.Gln888Ter",
        "hgvsWellDefined": "XP_006720501.1:p.Gln888_Leu1459delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGlyGluGlnProArgGlyAsnGlyAlaAsnProProGlyAlaProProGluValGluProSerSerGlyAsnProSerProGlnGlnAlaAlaSerValLeuLeuProArgCysArgLeuAsnProAspSerSerTrpAlaProLysArgValAlaThrAlaSerProPheSerGlyLeuGlnLysAlaGlnSerValHisSerLeuValProGlnGluArgHisGluAlaSerLeuGlnAlaProSerProGlyAlaLeuLeuSerArgGluIleGluAlaGlnAspGlyLeuGlySerLeuProProAlaAspGlyArgProSerArgProHisSerTyrGlnAsnProThrThrSerSerMetAlaLysIleSerArgSerIleSerValGlyGluAsnLeuGlyLeuValAlaGluProGlnAlaHisAlaProIleArgValSerProLeuSerLysLeuAlaLeuProSerArgAlaHisLeuValLeuAspIleProLysProLeuProAspArgProThrLeuAlaAlaPheSerProValThrLysGlyArgAlaProGlyGluAlaGluLysProGlyPheProValGlyLeuGlyLysAlaHisSerThrThrGluArgTrpAlaCysLeuGlyGluGlyThrThrProLysProArgThrGluCysGlnAlaHisProGlyProSerSerProCysAlaGlnGlnLeuProValSerSerLeuPheGlnGlyProGluAsnLeuGlnProProProProGluLysThrProAsnProMetGluCysThrLysProGlyAlaAlaLeuSerGlnAspSerGluProAlaValSerLeuGluGlnCysGluGlnLeuValAlaGluLeuArgGlySerValArgGlnAlaValArgLeuTyrHisSerValAlaGlyCysLysMetProSerAlaGluGlnSerArgIleAlaGlnLeuLeuArgAspThrPheSerSerValArgGlnGluLeuGluAlaValAlaGlyAlaValLeuSerSerProGlySerSerProGlyAlaValGlyAlaGluGlnThrGlnAlaLeuLeuGluGlnTyrSerGluLeuLeuLeuArgAlaValGluArgArgMetGluArgLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1187,
          "referenceAllele": "C",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_006720439.2:c.1078C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720502.1:p.Gln360Ter",
        "hgvsWellDefined": "XP_006720502.1:p.Gln360_Leu931delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGlyGluGlnProArgGlyAsnGlyAlaAsnProProGlyAlaProProGluValGluProSerSerGlyAsnProSerProGlnGlnAlaAlaSerValLeuLeuProArgCysArgLeuAsnProAspSerSerTrpAlaProLysArgValAlaThrAlaSerProPheSerGlyLeuGlnLysAlaGlnSerValHisSerLeuValProGlnGluArgHisGluAlaSerLeuGlnAlaProSerProGlyAlaLeuLeuSerArgGluIleGluAlaGlnAspGlyLeuGlySerLeuProProAlaAspGlyArgProSerArgProHisSerTyrGlnAsnProThrThrSerSerMetAlaLysIleSerArgSerIleSerValGlyGluAsnLeuGlyLeuValAlaGluProGlnAlaHisAlaProIleArgValSerProLeuSerLysLeuAlaLeuProSerArgAlaHisLeuValLeuAspIleProLysProLeuProAspArgProThrLeuAlaAlaPheSerProValThrLysGlyArgAlaProGlyGluAlaGluLysProGlyPheProValGlyLeuGlyLysAlaHisSerThrThrGluArgTrpAlaCysLeuGlyGluGlyThrThrProLysProArgThrGluCysGlnAlaHisProGlyProSerSerProCysAlaGlnGlnLeuProValSerSerLeuPheGlnGlyProGluAsnLeuGlnProProProProGluLysThrProAsnProMetGluCysThrLysProGlyAlaAlaLeuSerGlnAspSerGluProAlaValSerLeuGluGlnCysGluGlnLeuValAlaGluLeuArgGlySerValArgGlnAlaValArgLeuTyrHisSerValAlaGlyCysLysMetProSerAlaGluGlnSerArgIleAlaGlnLeuLeuArgAspThrPheSerSerValArgGlnGluLeuGluAlaValAlaGlyAlaValLeuSerSerProGlySerSerProGlyAlaValGlyAlaGluGlnThrGlnAlaLeuLeuGluGlnTyrSerGluLeuLeuLeuArgAlaValGluArgArgMetGluArgLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073661"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3072,
          "referenceAllele": "C",
          "start": 3071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_011521382.1:c.2827C>T"
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      "proteinEffect": {
        "hgvs": "XP_011519684.1:p.Gln943Ter",
        "hgvsWellDefined": "XP_011519684.1:p.Gln943_Leu1514delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGlyGluGlnProArgGlyAsnGlyAlaAsnProProGlyAlaProProGluValGluProSerSerGlyAsnProSerProGlnGlnAlaAlaSerValLeuLeuProArgCysArgLeuAsnProAspSerSerTrpAlaProLysArgValAlaThrAlaSerProPheSerGlyLeuGlnLysAlaGlnSerValHisSerLeuValProGlnGluArgHisGluAlaSerLeuGlnAlaProSerProGlyAlaLeuLeuSerArgGluIleGluAlaGlnAspGlyLeuGlySerLeuProProAlaAspGlyArgProSerArgProHisSerTyrGlnAsnProThrThrSerSerMetAlaLysIleSerArgSerIleSerValGlyGluAsnLeuGlyLeuValAlaGluProGlnAlaHisAlaProIleArgValSerProLeuSerLysLeuAlaLeuProSerArgAlaHisLeuValLeuAspIleProLysProLeuProAspArgProThrLeuAlaAlaPheSerProValThrLysGlyArgAlaProGlyGluAlaGluLysProGlyPheProValGlyLeuGlyLysAlaHisSerThrThrGluArgTrpAlaCysLeuGlyGluGlyThrThrProLysProArgThrGluCysGlnAlaHisProGlyProSerSerProCysAlaGlnGlnLeuProValSerSerLeuPheGlnGlyProGluAsnLeuGlnProProProProGluLysThrProAsnProMetGluCysThrLysProGlyAlaAlaLeuSerGlnAspSerGluProAlaValSerLeuGluGlnCysGluGlnLeuValAlaGluLeuArgGlySerValArgGlnAlaValArgLeuTyrHisSerValAlaGlyCysLysMetProSerAlaGluGlnSerArgIleAlaGlnLeuLeuArgAspThrPheSerSerValArgGlnGluLeuGluAlaValAlaGlyAlaValLeuSerSerProGlySerSerProGlyAlaValGlyAlaGluGlnThrGlnAlaLeuLeuGluGlnTyrSerGluLeuLeuLeuArgAlaValGluArgArgMetGluArgLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2930,
          "referenceAllele": "C",
          "start": 2929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_011521383.1:c.2680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519685.1:p.Gln894Ter",
        "hgvsWellDefined": "XP_011519685.1:p.Gln894_Leu1465delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGlyGluGlnProArgGlyAsnGlyAlaAsnProProGlyAlaProProGluValGluProSerSerGlyAsnProSerProGlnGlnAlaAlaSerValLeuLeuProArgCysArgLeuAsnProAspSerSerTrpAlaProLysArgValAlaThrAlaSerProPheSerGlyLeuGlnLysAlaGlnSerValHisSerLeuValProGlnGluArgHisGluAlaSerLeuGlnAlaProSerProGlyAlaLeuLeuSerArgGluIleGluAlaGlnAspGlyLeuGlySerLeuProProAlaAspGlyArgProSerArgProHisSerTyrGlnAsnProThrThrSerSerMetAlaLysIleSerArgSerIleSerValGlyGluAsnLeuGlyLeuValAlaGluProGlnAlaHisAlaProIleArgValSerProLeuSerLysLeuAlaLeuProSerArgAlaHisLeuValLeuAspIleProLysProLeuProAspArgProThrLeuAlaAlaPheSerProValThrLysGlyArgAlaProGlyGluAlaGluLysProGlyPheProValGlyLeuGlyLysAlaHisSerThrThrGluArgTrpAlaCysLeuGlyGluGlyThrThrProLysProArgThrGluCysGlnAlaHisProGlyProSerSerProCysAlaGlnGlnLeuProValSerSerLeuPheGlnGlyProGluAsnLeuGlnProProProProGluLysThrProAsnProMetGluCysThrLysProGlyAlaAlaLeuSerGlnAspSerGluProAlaValSerLeuGluGlnCysGluGlnLeuValAlaGluLeuArgGlySerValArgGlnAlaValArgLeuTyrHisSerValAlaGlyCysLysMetProSerAlaGluGlnSerArgIleAlaGlnLeuLeuArgAspThrPheSerSerValArgGlnGluLeuGluAlaValAlaGlyAlaValLeuSerSerProGlySerSerProGlyAlaValGlyAlaGluGlnThrGlnAlaLeuLeuGluGlnTyrSerGluLeuLeuLeuArgAlaValGluArgArgMetGluArgLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3077,
          "referenceAllele": "C",
          "start": 3076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_011521384.1:c.2827C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519686.1:p.Gln943Ter",
        "hgvsWellDefined": "XP_011519686.1:p.Gln943_Pro1412delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGlyGluGlnProArgGlyAsnGlyAlaAsnProProGlyAlaProProGluValGluProSerSerGlyAsnProSerProGlnGlnAlaAlaSerValLeuLeuProArgCysArgLeuAsnProAspSerSerTrpAlaProLysArgValAlaThrAlaSerProPheSerGlyLeuGlnLysAlaGlnSerValHisSerLeuValProGlnGluArgHisGluAlaSerLeuGlnAlaProSerProGlyAlaLeuLeuSerArgGluIleGluAlaGlnAspGlyLeuGlySerLeuProProAlaAspGlyArgProSerArgProHisSerTyrGlnAsnProThrThrSerSerMetAlaLysIleSerArgSerIleSerValGlyGluAsnLeuGlyLeuValAlaGluProGlnAlaHisAlaProIleArgValSerProLeuSerLysLeuAlaLeuProSerArgAlaHisLeuValLeuAspIleProLysProLeuProAspArgProThrLeuAlaAlaPheSerProValThrLysGlyArgAlaProGlyGluAlaGluLysProGlyPheProValGlyLeuGlyLysAlaHisSerThrThrGluArgTrpAlaCysLeuGlyGluGlyThrThrProLysProArgThrGluCysGlnAlaHisProGlyProSerSerProCysAlaGlnGlnLeuProValSerSerLeuPheGlnGlyProGluAsnLeuGlnProProProProGluLysThrProAsnProMetGluCysThrLysProGlyAlaAlaLeuSerGlnAspSerGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3077,
          "referenceAllele": "C",
          "start": 3076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_011521385.1:c.2827C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519687.1:p.Gln943Ter",
        "hgvsWellDefined": "XP_011519687.1:p.Gln943_Trp1129delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyProArgGluValArgValSerGluTyrLeuPheThrIleProValAlaSerThrAspProProThrGlnGlyThrIleProIleLeuLeuLysProGlyThrAspValGluThrSerProGlyAlaThrGlyIleTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2910,
          "referenceAllele": "C",
          "start": 2909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_006720438.2:c.2662C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720501.1:p.Gln888Ter",
        "hgvsWellDefined": "XP_006720501.1:p.Gln888_Leu1459delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGlyGluGlnProArgGlyAsnGlyAlaAsnProProGlyAlaProProGluValGluProSerSerGlyAsnProSerProGlnGlnAlaAlaSerValLeuLeuProArgCysArgLeuAsnProAspSerSerTrpAlaProLysArgValAlaThrAlaSerProPheSerGlyLeuGlnLysAlaGlnSerValHisSerLeuValProGlnGluArgHisGluAlaSerLeuGlnAlaProSerProGlyAlaLeuLeuSerArgGluIleGluAlaGlnAspGlyLeuGlySerLeuProProAlaAspGlyArgProSerArgProHisSerTyrGlnAsnProThrThrSerSerMetAlaLysIleSerArgSerIleSerValGlyGluAsnLeuGlyLeuValAlaGluProGlnAlaHisAlaProIleArgValSerProLeuSerLysLeuAlaLeuProSerArgAlaHisLeuValLeuAspIleProLysProLeuProAspArgProThrLeuAlaAlaPheSerProValThrLysGlyArgAlaProGlyGluAlaGluLysProGlyPheProValGlyLeuGlyLysAlaHisSerThrThrGluArgTrpAlaCysLeuGlyGluGlyThrThrProLysProArgThrGluCysGlnAlaHisProGlyProSerSerProCysAlaGlnGlnLeuProValSerSerLeuPheGlnGlyProGluAsnLeuGlnProProProProGluLysThrProAsnProMetGluCysThrLysProGlyAlaAlaLeuSerGlnAspSerGluProAlaValSerLeuGluGlnCysGluGlnLeuValAlaGluLeuArgGlySerValArgGlnAlaValArgLeuTyrHisSerValAlaGlyCysLysMetProSerAlaGluGlnSerArgIleAlaGlnLeuLeuArgAspThrPheSerSerValArgGlnGluLeuGluAlaValAlaGlyAlaValLeuSerSerProGlySerSerProGlyAlaValGlyAlaGluGlnThrGlnAlaLeuLeuGluGlnTyrSerGluLeuLeuLeuArgAlaValGluArgArgMetGluArgLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2928,
          "referenceAllele": "C",
          "start": 2927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_011521383.2:c.2680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519685.1:p.Gln894Ter",
        "hgvsWellDefined": "XP_011519685.1:p.Gln894_Leu1465delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGlyGluGlnProArgGlyAsnGlyAlaAsnProProGlyAlaProProGluValGluProSerSerGlyAsnProSerProGlnGlnAlaAlaSerValLeuLeuProArgCysArgLeuAsnProAspSerSerTrpAlaProLysArgValAlaThrAlaSerProPheSerGlyLeuGlnLysAlaGlnSerValHisSerLeuValProGlnGluArgHisGluAlaSerLeuGlnAlaProSerProGlyAlaLeuLeuSerArgGluIleGluAlaGlnAspGlyLeuGlySerLeuProProAlaAspGlyArgProSerArgProHisSerTyrGlnAsnProThrThrSerSerMetAlaLysIleSerArgSerIleSerValGlyGluAsnLeuGlyLeuValAlaGluProGlnAlaHisAlaProIleArgValSerProLeuSerLysLeuAlaLeuProSerArgAlaHisLeuValLeuAspIleProLysProLeuProAspArgProThrLeuAlaAlaPheSerProValThrLysGlyArgAlaProGlyGluAlaGluLysProGlyPheProValGlyLeuGlyLysAlaHisSerThrThrGluArgTrpAlaCysLeuGlyGluGlyThrThrProLysProArgThrGluCysGlnAlaHisProGlyProSerSerProCysAlaGlnGlnLeuProValSerSerLeuPheGlnGlyProGluAsnLeuGlnProProProProGluLysThrProAsnProMetGluCysThrLysProGlyAlaAlaLeuSerGlnAspSerGluProAlaValSerLeuGluGlnCysGluGlnLeuValAlaGluLeuArgGlySerValArgGlnAlaValArgLeuTyrHisSerValAlaGlyCysLysMetProSerAlaGluGlnSerArgIleAlaGlnLeuLeuArgAspThrPheSerSerValArgGlnGluLeuGluAlaValAlaGlyAlaValLeuSerSerProGlySerSerProGlyAlaValGlyAlaGluGlnThrGlnAlaLeuLeuGluGlnTyrSerGluLeuLeuLeuArgAlaValGluArgArgMetGluArgLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3075,
          "referenceAllele": "C",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_011521384.3:c.2827C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519686.1:p.Gln943Ter",
        "hgvsWellDefined": "XP_011519686.1:p.Gln943_Pro1412delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGlyGluGlnProArgGlyAsnGlyAlaAsnProProGlyAlaProProGluValGluProSerSerGlyAsnProSerProGlnGlnAlaAlaSerValLeuLeuProArgCysArgLeuAsnProAspSerSerTrpAlaProLysArgValAlaThrAlaSerProPheSerGlyLeuGlnLysAlaGlnSerValHisSerLeuValProGlnGluArgHisGluAlaSerLeuGlnAlaProSerProGlyAlaLeuLeuSerArgGluIleGluAlaGlnAspGlyLeuGlySerLeuProProAlaAspGlyArgProSerArgProHisSerTyrGlnAsnProThrThrSerSerMetAlaLysIleSerArgSerIleSerValGlyGluAsnLeuGlyLeuValAlaGluProGlnAlaHisAlaProIleArgValSerProLeuSerLysLeuAlaLeuProSerArgAlaHisLeuValLeuAspIleProLysProLeuProAspArgProThrLeuAlaAlaPheSerProValThrLysGlyArgAlaProGlyGluAlaGluLysProGlyPheProValGlyLeuGlyLysAlaHisSerThrThrGluArgTrpAlaCysLeuGlyGluGlyThrThrProLysProArgThrGluCysGlnAlaHisProGlyProSerSerProCysAlaGlnGlnLeuProValSerSerLeuPheGlnGlyProGluAsnLeuGlnProProProProGluLysThrProAsnProMetGluCysThrLysProGlyAlaAlaLeuSerGlnAspSerGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3206,
          "referenceAllele": "C",
          "start": 3205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XM_017022017.1:c.2680C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877506.1:p.Gln894Ter",
        "hgvsWellDefined": "XP_016877506.1:p.Gln894_Leu1465delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGlyGluGlnProArgGlyAsnGlyAlaAsnProProGlyAlaProProGluValGluProSerSerGlyAsnProSerProGlnGlnAlaAlaSerValLeuLeuProArgCysArgLeuAsnProAspSerSerTrpAlaProLysArgValAlaThrAlaSerProPheSerGlyLeuGlnLysAlaGlnSerValHisSerLeuValProGlnGluArgHisGluAlaSerLeuGlnAlaProSerProGlyAlaLeuLeuSerArgGluIleGluAlaGlnAspGlyLeuGlySerLeuProProAlaAspGlyArgProSerArgProHisSerTyrGlnAsnProThrThrSerSerMetAlaLysIleSerArgSerIleSerValGlyGluAsnLeuGlyLeuValAlaGluProGlnAlaHisAlaProIleArgValSerProLeuSerLysLeuAlaLeuProSerArgAlaHisLeuValLeuAspIleProLysProLeuProAspArgProThrLeuAlaAlaPheSerProValThrLysGlyArgAlaProGlyGluAlaGluLysProGlyPheProValGlyLeuGlyLysAlaHisSerThrThrGluArgTrpAlaCysLeuGlyGluGlyThrThrProLysProArgThrGluCysGlnAlaHisProGlyProSerSerProCysAlaGlnGlnLeuProValSerSerLeuPheGlnGlyProGluAsnLeuGlnProProProProGluLysThrProAsnProMetGluCysThrLysProGlyAlaAlaLeuSerGlnAspSerGluProAlaValSerLeuGluGlnCysGluGlnLeuValAlaGluLeuArgGlySerValArgGlnAlaValArgLeuTyrHisSerValAlaGlyCysLysMetProSerAlaGluGlnSerArgIleAlaGlnLeuLeuArgAspThrPheSerSerValArgGlnGluLeuGluAlaValAlaGlyAlaValLeuSerSerProGlySerSerProGlyAlaValGlyAlaGluGlnThrGlnAlaLeuLeuGluGlnTyrSerGluLeuLeuLeuArgAlaValGluArgArgMetGluArgLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3075,
          "referenceAllele": "C",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XR_001751156.2:n.3075C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3075,
          "referenceAllele": "C",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XR_001751157.2:n.3075C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3506,
          "referenceAllele": "C",
          "start": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "XR_001751159.2:n.3506C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829793119",
      "coordinates": [
        {
          "allele": "T",
          "end": 3045,
          "referenceAllele": "C",
          "start": 3044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NM_014994.3:c.2809C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055809.2:p.Gln937Ter",
        "hgvsWellDefined": "NP_055809.2:p.Gln937_Leu1508delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGlyGluGlnProArgGlyAsnGlyAlaAsnProProGlyAlaProProGluValGluProSerSerGlyAsnProSerProGlnGlnAlaAlaSerValLeuLeuProArgCysArgLeuAsnProAspSerSerTrpAlaProLysArgValAlaThrAlaSerProPheSerGlyLeuGlnLysAlaGlnSerValHisSerLeuValProGlnGluArgHisGluAlaSerLeuGlnAlaProSerProGlyAlaLeuLeuSerArgGluIleGluAlaGlnAspGlyLeuGlySerLeuProProAlaAspGlyArgProSerArgProHisSerTyrGlnAsnProThrThrSerSerMetAlaLysIleSerArgSerIleSerValGlyGluAsnLeuGlyLeuValAlaGluProGlnAlaHisAlaProIleArgValSerProLeuSerLysLeuAlaLeuProSerArgAlaHisLeuValLeuAspIleProLysProLeuProAspArgProThrLeuAlaAlaPheSerProValThrLysGlyArgAlaProGlyGluAlaGluLysProGlyPheProValGlyLeuGlyLysAlaHisSerThrThrGluArgTrpAlaCysLeuGlyGluGlyThrThrProLysProArgThrGluCysGlnAlaHisProGlyProSerSerProCysAlaGlnGlnLeuProValSerSerLeuPheGlnGlyProGluAsnLeuGlnProProProProGluLysThrProAsnProMetGluCysThrLysProGlyAlaAlaLeuSerGlnAspSerGluProAlaValSerLeuGluGlnCysGluGlnLeuValAlaGluLeuArgGlySerValArgGlnAlaValArgLeuTyrHisSerValAlaGlyCysLysMetProSerAlaGluGlnSerArgIleAlaGlnLeuLeuArgAspThrPheSerSerValArgGlnGluLeuGluAlaValAlaGlyAlaValLeuSerSerProGlySerSerProGlyAlaValGlyAlaGluGlnThrGlnAlaLeuLeuGluGlnTyrSerGluLeuLeuLeuArgAlaValGluArgArgMetGluArgLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668589",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000457542.7:c.2809C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014994.3:c.2809C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000397570.2:p.Gln937Ter"
          },
          "RefSeq": {
            "hgvs": "NP_055809.2:p.Gln937Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA645428849",
      "coordinates": [
        {
          "allele": "T",
          "end": 3063,
          "referenceAllele": "C",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NM_001128608.2:c.2827C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001122080.1:p.Gln943Ter",
        "hgvsWellDefined": "NP_001122080.1:p.Gln943_Leu1514delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGlyGluGlnProArgGlyAsnGlyAlaAsnProProGlyAlaProProGluValGluProSerSerGlyAsnProSerProGlnGlnAlaAlaSerValLeuLeuProArgCysArgLeuAsnProAspSerSerTrpAlaProLysArgValAlaThrAlaSerProPheSerGlyLeuGlnLysAlaGlnSerValHisSerLeuValProGlnGluArgHisGluAlaSerLeuGlnAlaProSerProGlyAlaLeuLeuSerArgGluIleGluAlaGlnAspGlyLeuGlySerLeuProProAlaAspGlyArgProSerArgProHisSerTyrGlnAsnProThrThrSerSerMetAlaLysIleSerArgSerIleSerValGlyGluAsnLeuGlyLeuValAlaGluProGlnAlaHisAlaProIleArgValSerProLeuSerLysLeuAlaLeuProSerArgAlaHisLeuValLeuAspIleProLysProLeuProAspArgProThrLeuAlaAlaPheSerProValThrLysGlyArgAlaProGlyGluAlaGluLysProGlyPheProValGlyLeuGlyLysAlaHisSerThrThrGluArgTrpAlaCysLeuGlyGluGlyThrThrProLysProArgThrGluCysGlnAlaHisProGlyProSerSerProCysAlaGlnGlnLeuProValSerSerLeuPheGlnGlyProGluAsnLeuGlnProProProProGluLysThrProAsnProMetGluCysThrLysProGlyAlaAlaLeuSerGlnAspSerGluProAlaValSerLeuGluGlnCysGluGlnLeuValAlaGluLeuArgGlySerValArgGlnAlaValArgLeuTyrHisSerValAlaGlyCysLysMetProSerAlaGluGlnSerArgIleAlaGlnLeuLeuArgAspThrPheSerSerValArgGlnGluLeuGluAlaValAlaGlyAlaValLeuSerSerProGlySerSerProGlyAlaValGlyAlaGluGlnThrGlnAlaLeuLeuGluGlnTyrSerGluLeuLeuLeuArgAlaValGluArgArgMetGluArgLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676995"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826487718",
      "coordinates": [
        {
          "allele": "T",
          "end": 3045,
          "referenceAllele": "C",
          "start": 3044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NM_001265611.2:c.2809C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001252540.1:p.Gln937Ter",
        "hgvsWellDefined": "NP_001252540.1:p.Gln937_Leu1231delinsAspLeuGluProAlaProIleGluAspGlyIleValTyrProGluProSerAspAsnProThrMetAspThrSerGluPheGlnValGlnAlaProAlaArgGlyThrLeuGlyArgValTyrProGlySerArgSerSerGluLysHisSerProAspSerAlaCysSerValAspTyrSerSerSerCysLeuSerSerProGluHisProThrGluAspSerGluSerThrGluProLeuSerValAspGlyIleSerSerAspLeuGluGluProAlaGluGlyAspGluGluGluGluGluGluGluGlyGlyMetGlyProTyrGlyLeuGlnGluGlySerProGlnThrProAspGlnGluGlnPheLeuLysGlnHisPheGluThrLeuAlaSerGlyAlaAlaProGlyAlaProValGlnValProGluArgSerGluSerArgSerIleSerSerArgPheLeuLeuGlnValGlnThrArgProLeuArgGluProSerProSerSerSerSerLeuAlaLeuMetSerArgProAlaGlnValProGlnAlaSerGluProAlaValSerLeuGluGlnCysGluGlnLeuValAlaGluLeuArgGlySerValArgGlnAlaValArgLeuTyrHisSerValAlaGlyCysLysMetProSerAlaGluGlnSerArgIleAlaGlnLeuLeuArgAspThrPheSerSerValArgGlnGluLeuGluAlaValAlaGlyAlaValLeuSerSerProGlySerSerProGlyAlaValGlyAlaGluGlnThrGlnAlaLeuLeuGluGlnTyrSerGluLeuLeuLeuArgAlaValGluArgArgMetGluArgLysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2855,
          "referenceAllele": "C",
          "start": 2854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NR_049761.2:n.2855C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2806,
          "referenceAllele": "C",
          "start": 2805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029536",
      "geneNCBI_id": 23005,
      "geneSymbol": "MAPKBP1",
      "hgvs": [
        "NR_049762.2:n.2806C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702580"
    }
  ],
  "type": "nucleotide"
}