{
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  "@id": "http://reg.genome.network/allele/CA341005",
  "communityStandardTitle": [
    "NM_000377.3(WAS):c.100C>T (p.Arg34Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=26158[alleleid]",
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        "preferredName": "NM_000377.3(WAS):c.100C>T (p.Arg34Ter)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/11119",
        "RCV": [
          "RCV000011868",
          "RCV003764558"
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        "variationId": 11119
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48542342C>T?assembly=hg19",
        "id": "chrX:g.48542342C>T"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chrX:g.48683953C>T?assembly=hg38",
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/132630271",
        "rs": 132630271
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      "referenceGenome": "GRCh38",
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    {
      "chromosome": "X",
      "coordinates": [
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    },
    {
      "chromosome": "X",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000685"
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      "referenceSequence": "http://reg.genome.network/refseq/RS909582"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS909590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 154
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751803",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000376701.5:c.100C>T"
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          "RefSeq": {
            "hgvs": "NM_000377.3:c.100C>T"
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        },
        "protein": {
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        }
      }
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    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 174
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS271277"
    },
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000410537.1:p.Arg34_Ala217del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS300865"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS309465"
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    {
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          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS323153"
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Arg34Ter",
        "hgvsWellDefined": "XP_011542279.1:p.Arg34_Asp450delinsLeuPheGluMetLeuGlyArgLysCysLeuThrLeuAlaThrAlaValValGlnLeuTyrLeuAlaLeuProProGlyAlaGluHisTrpThrLysGluHisCysGlyAlaValCysPheValLysAspAsnProGlnLysSerTyrPheIleArgLeuTyrGlyLeuGlnAlaGlyArgLeuLeuTrpGluGlnGluLeuTyrSerGlnLeuValTyrSerThrProThrProPhePheHisThrPheAlaGlyAspAspCysGlnAlaGlyLeuAsnPheAlaAspGluAspGluAlaGlnAlaPheArgAlaLeuValGlnGluLysIleGlnLysArgAsnGlnArgGlnSerGlyAspArgArgGlnLeuProProProProThrProAlaAsnGluGluArgArgGlyGlyLeuProProLeuProLeuHisProGlyGlyAspGlnGlyGlyProProValGlyProLeuSerLeuGlyLeuAlaThrValAspIleGlnAsnProAspIleThrSerSerArgTyrArgGlyLeuProAlaProGlyProSerProAlaAspLysLysArgSerGlyLysLysLysIleSerLysAlaAspIleGlyAlaProSerGlyPheLysHisValSerHisValGlyTrpAspProGlnAsnGlyPheAspValAsnAsnLeuAspProAspLeuArgSerLeuPheSerArgAlaGlyIleSerGluAlaGlnLeuThrAspAlaGluThrSerLysLeuIleTyrAspPheIleGluAspGlnGlyGlyLeuGluAlaValArgGlnGluMetArgArgGlnGlyArgGlyGlyProProProProProProProAlaThrGlyArgSerGlyProLeuProProProProProGlyAlaGlyGlyProProMetProProProProProProProProProProProSerSerGlyAsnGlyProAlaProProProLeuProProAlaLeuValProAlaGlyGlyLeuAlaProGlyGlyGlyArgGlyAlaLeuLeuAspGlnIleArgGlnGlyIleGlnLeuAsnLysThrProGlyAlaProGluSerSerAlaLeuGlnProProProGlnSerSerGluGlyLeuValGlyAlaLeuMetHisValMetGlnLysArgSerArgAlaIleHisSerSerAspGluGlyGluAspGlnAlaGlyAspGluAspGluAspAspGluTrpAspAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110890"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 162,
          "referenceAllele": "C",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_011543977.2:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542279.1:p.Arg34Ter",
        "hgvsWellDefined": "XP_011542279.1:p.Arg34_Asp450delinsLeuPheGluMetLeuGlyArgLysCysLeuThrLeuAlaThrAlaValValGlnLeuTyrLeuAlaLeuProProGlyAlaGluHisTrpThrLysGluHisCysGlyAlaValCysPheValLysAspAsnProGlnLysSerTyrPheIleArgLeuTyrGlyLeuGlnAlaGlyArgLeuLeuTrpGluGlnGluLeuTyrSerGlnLeuValTyrSerThrProThrProPhePheHisThrPheAlaGlyAspAspCysGlnAlaGlyLeuAsnPheAlaAspGluAspGluAlaGlnAlaPheArgAlaLeuValGlnGluLysIleGlnLysArgAsnGlnArgGlnSerGlyAspArgArgGlnLeuProProProProThrProAlaAsnGluGluArgArgGlyGlyLeuProProLeuProLeuHisProGlyGlyAspGlnGlyGlyProProValGlyProLeuSerLeuGlyLeuAlaThrValAspIleGlnAsnProAspIleThrSerSerArgTyrArgGlyLeuProAlaProGlyProSerProAlaAspLysLysArgSerGlyLysLysLysIleSerLysAlaAspIleGlyAlaProSerGlyPheLysHisValSerHisValGlyTrpAspProGlnAsnGlyPheAspValAsnAsnLeuAspProAspLeuArgSerLeuPheSerArgAlaGlyIleSerGluAlaGlnLeuThrAspAlaGluThrSerLysLeuIleTyrAspPheIleGluAspGlnGlyGlyLeuGluAlaValArgGlnGluMetArgArgGlnGlyArgGlyGlyProProProProProProProAlaThrGlyArgSerGlyProLeuProProProProProGlyAlaGlyGlyProProMetProProProProProProProProProProProSerSerGlyAsnGlyProAlaProProProLeuProProAlaLeuValProAlaGlyGlyLeuAlaProGlyGlyGlyArgGlyAlaLeuLeuAspGlnIleArgGlnGlyIleGlnLeuAsnLysThrProGlyAlaProGluSerSerAlaLeuGlnProProProGlnSerSerGluGlyLeuValGlyAlaLeuMetHisValMetGlnLysArgSerArgAlaIleHisSerSerAspGluGlyGluAspGlnAlaGlyAspGluAspGluAspAspGluTrpAspAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 201,
          "referenceAllele": "C",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "XM_017029786.1:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885275.1:p.Arg34Ter",
        "hgvsWellDefined": "XP_016885275.1:p.Arg34_Leu590delinsLeuPheGluMetLeuGlyArgLysCysLeuThrLeuAlaThrAlaValValGlnLeuTyrLeuAlaLeuProProGlyAlaGluHisTrpThrLysGluHisCysGlyAlaValCysPheValLysAspAsnProGlnLysSerTyrPheIleArgLeuTyrGlyLeuGlnAlaGlyArgLeuLeuTrpGluGlnGluLeuTyrSerGlnLeuValTyrSerThrProThrProPhePheHisThrPheAlaGlyAspAspCysGlnAlaGlyLeuAsnPheAlaAspGluAspGluAlaGlnAlaPheArgAlaLeuValGlnGluLysIleGlnLysArgAsnGlnArgGlnSerGlyAspArgArgGlnLeuProProProProThrProAlaAsnGluGluArgArgGlyGlyLeuProProLeuProLeuHisProGlyGlyAspGlnGlyGlyProProValGlyProLeuSerLeuGlyLeuAlaThrValAspIleGlnAsnProAspIleThrSerSerArgTyrArgGlyLeuProAlaProGlyProSerProAlaAspLysLysArgSerGlyLysLysLysIleSerLysAlaAspIleGlyAlaProSerGlyPheLysHisValSerHisValGlyTrpAspProGlnAsnGlyPheAspValAsnAsnLeuAspProAspLeuArgSerLeuPheSerArgAlaGlyIleSerGluAlaGlnLeuThrAspAlaGluThrSerLysLeuIleTyrAspPheIleGluAspGlnGlyGlyLeuGluAlaValArgGlnGluMetArgArgGlnGluProLeuProProProProProProSerArgGlyGlyAsnGlnLeuProArgProProIleValGlyGlyAsnLysGlyArgSerGlyProLeuProProValProLeuGlyIleAlaProProProProThrProArgGlyProProProProGlyArgGlyGlyProProProProProProProAlaThrGlyArgSerGlyProLeuProProProProProGlyAlaGlyGlyProProMetProProProProProProProProProProProSerSerGlyAsnGlyProAlaProProProLeuProProAlaLeuValProAlaGlyGlyLeuAlaProGlyGlyGlyArgGlyAlaLeuLeuAspGlnIleArgGlnGlyIleGlnLeuAsnLysThrProGlyAlaProGluSerSerAlaLeuGlnProProProGlnSerSerGluGlyLeuValGlyAlaLeuMetHisValMetGlnLysArgSerArgAlaIleHisSerSerGlySerArgSerValSerGlnAlaGlyValGlnTrpCysAsnHisGlySerValGlnProGlnProProArgLeuLysArgSerSerArgLeuSerSerGlnSerSerTrpAspTyrArgArgValProProTyrLeuAlaAsnPheTrpCysPhePheGlySerAspGluLeuSerLeuProSerSerHisTyrSerHisValAlaGlnAlaAlaLeuGlnLeuGlnGlySerSerAspLeuProArgLeuSerLeuProGluCysTrpAspTyrArgHisGluProProGlyLeuAlaValAsnLeuIlePheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579280"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341007",
      "coordinates": [
        {
          "allele": "T",
          "end": 155,
          "referenceAllele": "C",
          "start": 154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NM_000377.3:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000368.1:p.Arg34Ter",
        "hgvsWellDefined": "NP_000368.1:p.Arg34_Asp502delinsLeuPheGluMetLeuGlyArgLysCysLeuThrLeuAlaThrAlaValValGlnLeuTyrLeuAlaLeuProProGlyAlaGluHisTrpThrLysGluHisCysGlyAlaValCysPheValLysAspAsnProGlnLysSerTyrPheIleArgLeuTyrGlyLeuGlnAlaGlyArgLeuLeuTrpGluGlnGluLeuTyrSerGlnLeuValTyrSerThrProThrProPhePheHisThrPheAlaGlyAspAspCysGlnAlaGlyLeuAsnPheAlaAspGluAspGluAlaGlnAlaPheArgAlaLeuValGlnGluLysIleGlnLysArgAsnGlnArgGlnSerGlyAspArgArgGlnLeuProProProProThrProAlaAsnGluGluArgArgGlyGlyLeuProProLeuProLeuHisProGlyGlyAspGlnGlyGlyProProValGlyProLeuSerLeuGlyLeuAlaThrValAspIleGlnAsnProAspIleThrSerSerArgTyrArgGlyLeuProAlaProGlyProSerProAlaAspLysLysArgSerGlyLysLysLysIleSerLysAlaAspIleGlyAlaProSerGlyPheLysHisValSerHisValGlyTrpAspProGlnAsnGlyPheAspValAsnAsnLeuAspProAspLeuArgSerLeuPheSerArgAlaGlyIleSerGluAlaGlnLeuThrAspAlaGluThrSerLysLeuIleTyrAspPheIleGluAspGlnGlyGlyLeuGluAlaValArgGlnGluMetArgArgGlnGluProLeuProProProProProProSerArgGlyGlyAsnGlnLeuProArgProProIleValGlyGlyAsnLysGlyArgSerGlyProLeuProProValProLeuGlyIleAlaProProProProThrProArgGlyProProProProGlyArgGlyGlyProProProProProProProAlaThrGlyArgSerGlyProLeuProProProProProGlyAlaGlyGlyProProMetProProProProProProProProProProProSerSerGlyAsnGlyProAlaProProProLeuProProAlaLeuValProAlaGlyGlyLeuAlaProGlyGlyGlyArgGlyAlaLeuLeuAspGlnIleArgGlnGlyIleGlnLeuAsnLysThrProGlyAlaProGluSerSerAlaLeuGlnProProProGlnSerSerGluGlyLeuValGlyAlaLeuMetHisValMetGlnLysArgSerArgAlaIleHisSerSerAspGluGlyGluAspGlnAlaGlyAspGluAspGluAspAspGluTrpAspAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376701.5:c.100C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000377.3:c.100C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365891.4:p.Arg34Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000368.1:p.Arg34Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}