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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2138565",
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      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Gln20Ter",
        "hgvsWellDefined": "XP_011542279.1:p.Gln20_Asp450delinsAsnIleProSerThrLeuLeuGlnAspHisGluAsnGlnArgLeuPheGluMetLeuGlyArgLysCysLeuThrLeuAlaThrAlaValValGlnLeuTyrLeuAlaLeuProProGlyAlaGluHisTrpThrLysGluHisCysGlyAlaValCysPheValLysAspAsnProGlnLysSerTyrPheIleArgLeuTyrGlyLeuGlnAlaGlyArgLeuLeuTrpGluGlnGluLeuTyrSerGlnLeuValTyrSerThrProThrProPhePheHisThrPheAlaGlyAspAspCysGlnAlaGlyLeuAsnPheAlaAspGluAspGluAlaGlnAlaPheArgAlaLeuValGlnGluLysIleGlnLysArgAsnGlnArgGlnSerGlyAspArgArgGlnLeuProProProProThrProAlaAsnGluGluArgArgGlyGlyLeuProProLeuProLeuHisProGlyGlyAspGlnGlyGlyProProValGlyProLeuSerLeuGlyLeuAlaThrValAspIleGlnAsnProAspIleThrSerSerArgTyrArgGlyLeuProAlaProGlyProSerProAlaAspLysLysArgSerGlyLysLysLysIleSerLysAlaAspIleGlyAlaProSerGlyPheLysHisValSerHisValGlyTrpAspProGlnAsnGlyPheAspValAsnAsnLeuAspProAspLeuArgSerLeuPheSerArgAlaGlyIleSerGluAlaGlnLeuThrAspAlaGluThrSerLysLeuIleTyrAspPheIleGluAspGlnGlyGlyLeuGluAlaValArgGlnGluMetArgArgGlnGlyArgGlyGlyProProProProProProProAlaThrGlyArgSerGlyProLeuProProProProProGlyAlaGlyGlyProProMetProProProProProProProProProProProSerSerGlyAsnGlyProAlaProProProLeuProProAlaLeuValProAlaGlyGlyLeuAlaProGlyGlyGlyArgGlyAlaLeuLeuAspGlnIleArgGlnGlyIleGlnLeuAsnLysThrProGlyAlaProGluSerSerAlaLeuGlnProProProGlnSerSerGluGlyLeuValGlyAlaLeuMetHisValMetGlnLysArgSerArgAlaIleHisSerSerAspGluGlyGluAspGlnAlaGlyAspGluAspGluAspAspGluTrpAspAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 120,
          "referenceAllele": "C",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_011543977.2:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Gln20Ter",
        "hgvsWellDefined": "XP_011542279.1:p.Gln20_Asp450delinsAsnIleProSerThrLeuLeuGlnAspHisGluAsnGlnArgLeuPheGluMetLeuGlyArgLysCysLeuThrLeuAlaThrAlaValValGlnLeuTyrLeuAlaLeuProProGlyAlaGluHisTrpThrLysGluHisCysGlyAlaValCysPheValLysAspAsnProGlnLysSerTyrPheIleArgLeuTyrGlyLeuGlnAlaGlyArgLeuLeuTrpGluGlnGluLeuTyrSerGlnLeuValTyrSerThrProThrProPhePheHisThrPheAlaGlyAspAspCysGlnAlaGlyLeuAsnPheAlaAspGluAspGluAlaGlnAlaPheArgAlaLeuValGlnGluLysIleGlnLysArgAsnGlnArgGlnSerGlyAspArgArgGlnLeuProProProProThrProAlaAsnGluGluArgArgGlyGlyLeuProProLeuProLeuHisProGlyGlyAspGlnGlyGlyProProValGlyProLeuSerLeuGlyLeuAlaThrValAspIleGlnAsnProAspIleThrSerSerArgTyrArgGlyLeuProAlaProGlyProSerProAlaAspLysLysArgSerGlyLysLysLysIleSerLysAlaAspIleGlyAlaProSerGlyPheLysHisValSerHisValGlyTrpAspProGlnAsnGlyPheAspValAsnAsnLeuAspProAspLeuArgSerLeuPheSerArgAlaGlyIleSerGluAlaGlnLeuThrAspAlaGluThrSerLysLeuIleTyrAspPheIleGluAspGlnGlyGlyLeuGluAlaValArgGlnGluMetArgArgGlnGlyArgGlyGlyProProProProProProProAlaThrGlyArgSerGlyProLeuProProProProProGlyAlaGlyGlyProProMetProProProProProProProProProProProSerSerGlyAsnGlyProAlaProProProLeuProProAlaLeuValProAlaGlyGlyLeuAlaProGlyGlyGlyArgGlyAlaLeuLeuAspGlnIleArgGlnGlyIleGlnLeuAsnLysThrProGlyAlaProGluSerSerAlaLeuGlnProProProGlnSerSerGluGlyLeuValGlyAlaLeuMetHisValMetGlnLysArgSerArgAlaIleHisSerSerAspGluGlyGluAspGlnAlaGlyAspGluAspGluAspAspGluTrpAspAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 159,
          "referenceAllele": "C",
          "start": 158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_017029786.1:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885275.1:p.Gln20Ter",
        "hgvsWellDefined": "XP_016885275.1:p.Gln20_Leu590delinsAsnIleProSerThrLeuLeuGlnAspHisGluAsnGlnArgLeuPheGluMetLeuGlyArgLysCysLeuThrLeuAlaThrAlaValValGlnLeuTyrLeuAlaLeuProProGlyAlaGluHisTrpThrLysGluHisCysGlyAlaValCysPheValLysAspAsnProGlnLysSerTyrPheIleArgLeuTyrGlyLeuGlnAlaGlyArgLeuLeuTrpGluGlnGluLeuTyrSerGlnLeuValTyrSerThrProThrProPhePheHisThrPheAlaGlyAspAspCysGlnAlaGlyLeuAsnPheAlaAspGluAspGluAlaGlnAlaPheArgAlaLeuValGlnGluLysIleGlnLysArgAsnGlnArgGlnSerGlyAspArgArgGlnLeuProProProProThrProAlaAsnGluGluArgArgGlyGlyLeuProProLeuProLeuHisProGlyGlyAspGlnGlyGlyProProValGlyProLeuSerLeuGlyLeuAlaThrValAspIleGlnAsnProAspIleThrSerSerArgTyrArgGlyLeuProAlaProGlyProSerProAlaAspLysLysArgSerGlyLysLysLysIleSerLysAlaAspIleGlyAlaProSerGlyPheLysHisValSerHisValGlyTrpAspProGlnAsnGlyPheAspValAsnAsnLeuAspProAspLeuArgSerLeuPheSerArgAlaGlyIleSerGluAlaGlnLeuThrAspAlaGluThrSerLysLeuIleTyrAspPheIleGluAspGlnGlyGlyLeuGluAlaValArgGlnGluMetArgArgGlnGluProLeuProProProProProProSerArgGlyGlyAsnGlnLeuProArgProProIleValGlyGlyAsnLysGlyArgSerGlyProLeuProProValProLeuGlyIleAlaProProProProThrProArgGlyProProProProGlyArgGlyGlyProProProProProProProAlaThrGlyArgSerGlyProLeuProProProProProGlyAlaGlyGlyProProMetProProProProProProProProProProProSerSerGlyAsnGlyProAlaProProProLeuProProAlaLeuValProAlaGlyGlyLeuAlaProGlyGlyGlyArgGlyAlaLeuLeuAspGlnIleArgGlnGlyIleGlnLeuAsnLysThrProGlyAlaProGluSerSerAlaLeuGlnProProProGlnSerSerGluGlyLeuValGlyAlaLeuMetHisValMetGlnLysArgSerArgAlaIleHisSerSerGlySerArgSerValSerGlnAlaGlyValGlnTrpCysAsnHisGlySerValGlnProGlnProProArgLeuLysArgSerSerArgLeuSerSerGlnSerSerTrpAspTyrArgArgValProProTyrLeuAlaAsnPheTrpCysPhePheGlySerAspGluLeuSerLeuProSerSerHisTyrSerHisValAlaGlnAlaAlaLeuGlnLeuGlnGlySerSerAspLeuProArgLeuSerLeuProGluCysTrpAspTyrArgHisGluProProGlyLeuAlaValAsnLeuIlePheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580113848",
      "coordinates": [
        {
          "allele": "T",
          "end": 113,
          "referenceAllele": "C",
          "start": 112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NM_000377.3:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000368.1:p.Gln20Ter",
        "hgvsWellDefined": "NP_000368.1:p.Gln20_Asp502delinsAsnIleProSerThrLeuLeuGlnAspHisGluAsnGlnArgLeuPheGluMetLeuGlyArgLysCysLeuThrLeuAlaThrAlaValValGlnLeuTyrLeuAlaLeuProProGlyAlaGluHisTrpThrLysGluHisCysGlyAlaValCysPheValLysAspAsnProGlnLysSerTyrPheIleArgLeuTyrGlyLeuGlnAlaGlyArgLeuLeuTrpGluGlnGluLeuTyrSerGlnLeuValTyrSerThrProThrProPhePheHisThrPheAlaGlyAspAspCysGlnAlaGlyLeuAsnPheAlaAspGluAspGluAlaGlnAlaPheArgAlaLeuValGlnGluLysIleGlnLysArgAsnGlnArgGlnSerGlyAspArgArgGlnLeuProProProProThrProAlaAsnGluGluArgArgGlyGlyLeuProProLeuProLeuHisProGlyGlyAspGlnGlyGlyProProValGlyProLeuSerLeuGlyLeuAlaThrValAspIleGlnAsnProAspIleThrSerSerArgTyrArgGlyLeuProAlaProGlyProSerProAlaAspLysLysArgSerGlyLysLysLysIleSerLysAlaAspIleGlyAlaProSerGlyPheLysHisValSerHisValGlyTrpAspProGlnAsnGlyPheAspValAsnAsnLeuAspProAspLeuArgSerLeuPheSerArgAlaGlyIleSerGluAlaGlnLeuThrAspAlaGluThrSerLysLeuIleTyrAspPheIleGluAspGlnGlyGlyLeuGluAlaValArgGlnGluMetArgArgGlnGluProLeuProProProProProProSerArgGlyGlyAsnGlnLeuProArgProProIleValGlyGlyAsnLysGlyArgSerGlyProLeuProProValProLeuGlyIleAlaProProProProThrProArgGlyProProProProGlyArgGlyGlyProProProProProProProAlaThrGlyArgSerGlyProLeuProProProProProGlyAlaGlyGlyProProMetProProProProProProProProProProProSerSerGlyAsnGlyProAlaProProProLeuProProAlaLeuValProAlaGlyGlyLeuAlaProGlyGlyGlyArgGlyAlaLeuLeuAspGlnIleArgGlnGlyIleGlnLeuAsnLysThrProGlyAlaProGluSerSerAlaLeuGlnProProProGlnSerSerGluGlyLeuValGlyAlaLeuMetHisValMetGlnLysArgSerArgAlaIleHisSerSerAspGluGlyGluAspGlnAlaGlyAspGluAspGluAspAspGluTrpAspAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376701.5:c.58C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000377.3:c.58C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365891.4:p.Gln20Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000368.1:p.Gln20Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}