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      "proteinEffect": {
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        "hgvsWellDefined": "NP_057122.2:p.Lys62_Glu250delinsGlyGlnValAlaLysLysGluAspLeuIleSerAlaPheGlyThrAspAspGlnThrGluIleCysLysGlnIleLeuThrLysGlyGluValGlnValSerAspLysGluArgHisThrGlnLeuGluGlnMetPheArgAspIleAlaThrIleValAlaAspLysCysValAsnProGluThrLysArgProTyrThrValIleLeuIleGluArgAlaMetLysAspIleHisTyrSerValLysThrAsnLysSerThrLysGlnGlnAlaLeuGluValIleLysGlnLeuLysGluLysMetLysIleGluArgAlaHisMetArgLeuArgPheIleLeuProValAsnGluGlyLysLysLeuLysGluLysLeuLysProLeuIleLysValIleGluSerGluAspTyrGlyGlnGlnLeuGluIleValCysLeuIleAspProGlyCysPheArgGluIleAspGluLeuIleLysLysGluThrLysGlyLysGlySerLeuGluValLeuAsnLeuLysAspValGluGluGlyAspGluLysPheGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034384"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340052",
      "coordinates": [
        {
          "allele": "T",
          "end": 463,
          "referenceAllele": "A",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "NM_016038.3:c.184A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057122.2:p.Lys62Ter",
        "hgvsWellDefined": "NP_057122.2:p.Lys62_Glu250delinsGlyGlnValAlaLysLysGluAspLeuIleSerAlaPheGlyThrAspAspGlnThrGluIleCysLysGlnIleLeuThrLysGlyGluValGlnValSerAspLysGluArgHisThrGlnLeuGluGlnMetPheArgAspIleAlaThrIleValAlaAspLysCysValAsnProGluThrLysArgProTyrThrValIleLeuIleGluArgAlaMetLysAspIleHisTyrSerValLysThrAsnLysSerThrLysGlnGlnAlaLeuGluValIleLysGlnLeuLysGluLysMetLysIleGluArgAlaHisMetArgLeuArgPheIleLeuProValAsnGluGlyLysLysLeuLysGluLysLeuLysProLeuIleLysValIleGluSerGluAspTyrGlyGlnGlnLeuGluIleValCysLeuIleAspProGlyCysPheArgGluIleAspGluLeuIleLysLysGluThrLysGlyLysGlySerLeuGluValLeuAsnLeuLysAspValGluGluGlyAspGluLysPheGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525732"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340052",
      "coordinates": [
        {
          "allele": "T",
          "end": 353,
          "referenceAllele": "A",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019440",
      "geneNCBI_id": 51119,
      "geneSymbol": "SBDS",
      "hgvs": [
        "NM_016038.4:c.184A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057122.2:p.Lys62Ter",
        "hgvsWellDefined": "NP_057122.2:p.Lys62_Glu250delinsGlyGlnValAlaLysLysGluAspLeuIleSerAlaPheGlyThrAspAspGlnThrGluIleCysLysGlnIleLeuThrLysGlyGluValGlnValSerAspLysGluArgHisThrGlnLeuGluGlnMetPheArgAspIleAlaThrIleValAlaAspLysCysValAsnProGluThrLysArgProTyrThrValIleLeuIleGluArgAlaMetLysAspIleHisTyrSerValLysThrAsnLysSerThrLysGlnGlnAlaLeuGluValIleLysGlnLeuLysGluLysMetLysIleGluArgAlaHisMetArgLeuArgPheIleLeuProValAsnGluGlyLysLysLeuLysGluLysLeuLysProLeuIleLysValIleGluSerGluAspTyrGlyGlnGlnLeuGluIleValCysLeuIleAspProGlyCysPheArgGluIleAspGluLeuIleLysLysGluThrLysGlyLysGlySerLeuGluValLeuAsnLeuLysAspValGluGluGlyAspGluLysPheGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668955",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000246868.7:c.184A>T"
          },
          "RefSeq": {
            "hgvs": "NM_016038.4:c.184A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000246868.2:p.Lys62Ter"
          },
          "RefSeq": {
            "hgvs": "NP_057122.2:p.Lys62Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}