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  "communityStandardTitle": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1804783",
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      "proteinEffect": {
        "hgvs": "NP_006822.1:p.Arg19Ter",
        "hgvsWellDefined": "NP_006822.1:p.Arg19_Lys425delinsGluThrGluLeuArgPheGluValGluAlaSerGlnSerValGlnLeuGluLeuLeuThrGlyMetAlaGluIlePheGlyThrGluLeuThrArgAsnLysLysPheThrPheAspAlaGlyAlaLysValAlaValPheThrTrpHisGlyCysSerValGlnLeuSerGlyArgThrGluValAlaTyrValSerLysAspThrProMetLeuLeuTyrLeuAsnThrHisThrAlaLeuGluGlnMetArgArgGlnAlaGluLysGluGluGluArgGlyProArgValMetValValGlyProThrAspValGlyLysSerThrValCysArgLeuLeuLeuAsnTyrAlaValArgLeuGlyArgArgProThrTyrValGluLeuAspValGlyGlnGlySerValSerIleProGlyThrMetGlyAlaLeuTyrIleGluArgProAlaAspValGluGluGlyPheSerIleGlnAlaProLeuValTyrHisPheGlySerThrThrProGlyThrAsnIleLysLeuTyrAsnLysIleThrSerArgLeuAlaAspValPheAsnGlnArgCysGluValAsnArgArgAlaSerValSerGlyCysValIleAsnThrCysGlyTrpValLysGlySerGlyTyrGlnAlaLeuValHisAlaAlaSerAlaPheGluValAspValValValValLeuAspGlnGluArgLeuTyrAsnGluLeuLysArgAspLeuProHisPheValArgThrValLeuLeuProLysSerGlyGlyValValGluArgSerLysAspPheArgArgGluCysArgAspGluArgIleArgGluTyrPheTyrGlyPheArgGlyCysPheTyrProHisAlaPheAsnValLysPheSerAspValLysIleTyrLysValGlyAlaProThrIleProAspSerCysLeuProLeuGlyMetSerGlnGluAspAsnGlnLeuLysLeuValProValThrProGlyArgAspMetValHisHisLeuLeuSerValSerThrAlaGluGlyThrGluGluAsnLeuSerGluThrSerValAlaGlyPheIleValValThrSerValAspLeuGluHisGlnValPheThrValLeuSerProAlaProArgProLeuProLysAsnPheLeuLeuIleMetAspIleArgPheMetAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031812"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580351602",
      "coordinates": [
        {
          "allele": "T",
          "end": 176,
          "referenceAllele": "C",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016999",
      "geneNCBI_id": 10978,
      "geneSymbol": "CLP1",
      "hgvs": [
        "NM_006831.3:c.55C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006822.1:p.Arg19Ter",
        "hgvsWellDefined": "NP_006822.1:p.Arg19_Lys425delinsGluThrGluLeuArgPheGluValGluAlaSerGlnSerValGlnLeuGluLeuLeuThrGlyMetAlaGluIlePheGlyThrGluLeuThrArgAsnLysLysPheThrPheAspAlaGlyAlaLysValAlaValPheThrTrpHisGlyCysSerValGlnLeuSerGlyArgThrGluValAlaTyrValSerLysAspThrProMetLeuLeuTyrLeuAsnThrHisThrAlaLeuGluGlnMetArgArgGlnAlaGluLysGluGluGluArgGlyProArgValMetValValGlyProThrAspValGlyLysSerThrValCysArgLeuLeuLeuAsnTyrAlaValArgLeuGlyArgArgProThrTyrValGluLeuAspValGlyGlnGlySerValSerIleProGlyThrMetGlyAlaLeuTyrIleGluArgProAlaAspValGluGluGlyPheSerIleGlnAlaProLeuValTyrHisPheGlySerThrThrProGlyThrAsnIleLysLeuTyrAsnLysIleThrSerArgLeuAlaAspValPheAsnGlnArgCysGluValAsnArgArgAlaSerValSerGlyCysValIleAsnThrCysGlyTrpValLysGlySerGlyTyrGlnAlaLeuValHisAlaAlaSerAlaPheGluValAspValValValValLeuAspGlnGluArgLeuTyrAsnGluLeuLysArgAspLeuProHisPheValArgThrValLeuLeuProLysSerGlyGlyValValGluArgSerLysAspPheArgArgGluCysArgAspGluArgIleArgGluTyrPheTyrGlyPheArgGlyCysPheTyrProHisAlaPheAsnValLysPheSerAspValLysIleTyrLysValGlyAlaProThrIleProAspSerCysLeuProLeuGlyMetSerGlnGluAspAsnGlnLeuLysLeuValProValThrProGlyArgAspMetValHisHisLeuLeuSerValSerThrAlaGluGlyThrGluGluAsnLeuSerGluThrSerValAlaGlyPheIleValValThrSerValAspLeuGluHisGlnValPheThrValLeuSerProAlaProArgProLeuProLysAsnPheLeuLeuIleMetAspIleArgPheMetAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667647",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533682.2:c.55C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006831.3:c.55C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434995.1:p.Arg19Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006822.1:p.Arg19Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825804594",
      "coordinates": [
        {
          "allele": "T",
          "end": 176,
          "referenceAllele": "C",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016999",
      "geneNCBI_id": 10978,
      "geneSymbol": "CLP1",
      "hgvs": [
        "NM_001142597.2:c.55C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136069.1:p.Arg19Ter",
        "hgvsWellDefined": "NP_001136069.1:p.Arg19_Lys361delinsGluThrGluLeuArgPheGluValGluAlaSerGlnSerValGlnLeuGluLeuLeuThrGlyMetAlaGluIlePheGlyThrGluLeuThrArgAsnLysLysPheThrPheAspAlaGlyAlaLysValAlaValPheThrTrpHisGlyCysSerValGlnLeuSerGlyArgThrGluValAlaTyrValSerLysAspThrProMetLeuLeuTyrLeuAsnThrHisThrAlaLeuGluGlnMetArgArgGlnAlaGluLysGluGluGluArgGlyProArgValMetValValGlyProThrAspValGlyLysSerThrValCysArgLeuLeuLeuAsnTyrAlaIleThrSerArgLeuAlaAspValPheAsnGlnArgCysGluValAsnArgArgAlaSerValSerGlyCysValIleAsnThrCysGlyTrpValLysGlySerGlyTyrGlnAlaLeuValHisAlaAlaSerAlaPheGluValAspValValValValLeuAspGlnGluArgLeuTyrAsnGluLeuLysArgAspLeuProHisPheValArgThrValLeuLeuProLysSerGlyGlyValValGluArgSerLysAspPheArgArgGluCysArgAspGluArgIleArgGluTyrPheTyrGlyPheArgGlyCysPheTyrProHisAlaPheAsnValLysPheSerAspValLysIleTyrLysValGlyAlaProThrIleProAspSerCysLeuProLeuGlyMetSerGlnGluAspAsnGlnLeuLysLeuValProValThrProGlyArgAspMetValHisHisLeuLeuSerValSerThrAlaGluGlyThrGluGluAsnLeuSerGluThrSerValAlaGlyPheIleValValThrSerValAspLeuGluHisGlnValPheThrValLeuSerProAlaProArgProLeuProLysAsnPheLeuLeuIleMetAspIleArgPheMetAspLeuLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712608"
    }
  ],
  "type": "nucleotide"
}