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      "proteinEffect": {
        "hgvs": "NP_001121171.1:p.Lys23Ter",
        "hgvsWellDefined": "NP_001121171.1:p.Lys23_Tyr916delinsAsnGluAspGlnGluMetCysHisGluPheGlnAlaPheMetLysAsnGlyLysLeuPheCysProGlnAspLysLysPhePheGlnSerLeuAspGlyIleMetPheIleAsnLysCysAlaThrCysLysMetIleLeuGluLysGluAlaLysSerGlnLysArgAlaArgHisLeuAlaArgAlaProLysAlaThrAlaProThrGluLeuAsnCysAspAspPheLysLysGlyGluArgAspGlyAspPheIleCysProAspTyrTyrGluAlaValCysGlyThrAspGlyLysThrTyrAspAsnArgCysAlaLeuCysAlaGluAsnAlaLysThrGlySerGlnIleGlyValLysSerGluGlyGluCysLysSerSerAsnProGluGlnAspValCysSerAlaPheArgProPheValArgAspGlyArgLeuGlyCysThrArgGluAsnAspProValLeuGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysAlaGluLeuPheLeuLysGluAlaGluAsnAlaLysArgGluGlyGluThrArgIleArgArgAsnAlaGluLysAspPheCysLysGluTyrGluLysGlnValArgAsnGlyArgLeuPheCysThrArgGluSerAspProValArgGlyProAspGlyArgMetHisGlyAsnLysCysAlaLeuCysAlaGluIlePheLysGlnArgPheSerGluGluAsnSerLysThrAspGlnAsnLeuGlyLysAlaGluGluLysThrLysValLysArgGluIleValLysLeuCysSerGlnTyrGlnAsnGlnAlaLysAsnGlyIleLeuPheCysThrArgGluAsnAspProIleArgGlyProAspGlyLysMetHisGlyAsnLeuCysSerMetCysGlnAlaTyrPheGlnAlaGluAsnGluGluLysLysLysAlaGluAlaArgAlaArgAsnLysArgGluSerGlyLysAlaThrSerTyrAlaGluLeuCysSerGluTyrArgLysLeuValArgAsnGlyLysLeuAlaCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysValHisGlyAsnThrCysSerMetCysGluValPhePheGlnAlaGluGluGluGluLysLysLysLysGluGlyLysSerArgAsnLysArgGlnSerLysSerThrAlaSerPheGluGluLeuCysSerGluTyrArgLysSerArgLysAsnGlyArgLeuPheCysThrArgGluAsnAspProIleGlnGlyProAspGlyLysMetHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluGluArgAlaArgAlaLysAlaLysArgGluAlaAlaLysGluIleCysSerGluPheArgAspGlnValArgAsnGlyThrLeuIleCysThrArgGluHisAsnProValArgGlyProAspGlyLysMetHisGlyAsnLysCysAlaMetCysAlaSerValPheLysLeuGluGluGluGluLysLysAsnAspLysGluGluLysGlyLysValGluAlaGluLysValLysArgGluAlaValGlnGluLeuCysSerGluTyrArgHisTyrValArgAsnGlyArgLeuProCysThrArgGluAsnAspProIleGluGlyLeuAspGlyLysIleHisGlyAsnThrCysSerMetCysGluAlaPhePheGlnGlnGluAlaLysGluLysGluArgAlaGluProArgAlaLysValLysArgGluAlaGluLysGluThrCysAspGluPheArgArgLeuLeuGlnAsnGlyLysLeuPheCysThrArgGluAsnAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysAlaMetCysLysAlaValPheGlnLysGluAsnGluGluArgLysArgLysGluGluGluAspGlnArgAsnAlaAlaGlyHisGlySerSerGlyGlyGlyGlyGlyAsnThrGlnAspGluCysAlaGluTyrArgGluGlnMetLysAsnGlyArgLeuSerCysThrArgGluSerAspProValArgAspAlaAspGlyLysSerTyrAsnAsnGlnCysThrMetCysLysAlaLysLeuGluArgGluAlaGluArgLysAsnGluTyrSerArgSerArgSerAsnGlyThrGlySerGluSerGlyLysAspThrCysAspGluPheArgSerGlnMetLysAsnGlyLysLeuIleCysThrArgGluSerAspProValArgGlyProAspGlyLysThrHisGlyAsnLysCysThrMetCysLysGluLysLeuGluArgGluAlaAlaGluLysLysLysLysGluAspGluAspArgSerAsnThrGlyGluArgSerAsnThrGlyGluArgSerAsnAspLysGluAspLeuCysArgGluPheArgSerMetGlnArgAsnGlyLysLeuIleCysThrArgGluAsnAsnProValArgGlyProTyrGlyLysMetHisIleAsnLysCysAlaMetCysGlnSerIlePheAspArgGluAlaAsnGluArgLysLysLysAspGluGluLysSerSerSerLysProSerAsnAsnAlaLysValIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 132,
          "referenceAllele": "A",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015464",
      "geneNCBI_id": 11005,
      "geneSymbol": "SPINK5",
      "hgvs": [
        "NM_006846.4:c.67A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006837.2:p.Lys23Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696831",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000256084.8:c.67A>T"
          },
          "RefSeq": {
            "hgvs": "NM_006846.4:c.67A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000256084.7:p.Lys23Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006837.2:p.Lys23Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}