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  "communityStandardTitle": [
    "NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter)"
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        "RCV": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS030184"
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      "proteinEffect": {
        "hgvs": "NP_005046.2:p.Trp200Ter",
        "hgvsWellDefined": "NP_005046.2:p.Trp200_Val412delinsSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluThrAlaPheProArgTyrAspSerAlaMetSerIleMetThrGluIleGlyAsnArgLeuGlyGlnValGlnAlaLeuLeuGlyValAlaLysCysTrpValAlaArgLysAlaLeuAspLysAlaLeuAspAlaIleGluArgAlaGlnAspLeuAlaGluGluValGlyAsnLysLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298854.7:c.599G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005055.5:c.599G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298854.2:p.Trp200Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005046.2:p.Trp200Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293832",
      "coordinates": [
        {
          "allele": "A",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009863",
      "geneNCBI_id": 5913,
      "geneSymbol": "RAPSN",
      "hgvs": [
        "NM_032645.5:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116034.2:p.Trp200Ter",
        "hgvsWellDefined": "NP_116034.2:p.Trp200_Val353delinsSerLeuLysTyrArgAlaMetSerGlnTyrHisMetAlaValAlaTyrArgLeuLeuGlyArgLeuGlySerAlaMetGluCysCysGluGluSerMetLysIleAlaLeuGlnHisGlyAspArgProLeuGlnAlaLeuCysLeuLeuCysPheAlaAspIleHisArgSerArgGlyAspLeuGluLeuSerGlnLeuLysLeuHisCysLeuSerGluSerIleTyrArgSerLysGlyLeuGlnArgGluLeuArgAlaHisValValArgPheHisGluCysValGluGluThrGluLeuTyrCysGlyLeuCysGlyGluSerIleGlyGluLysAsnSerArgLeuGlnAlaLeuProCysSerHisIlePheHisLeuArgCysLeuGlnAsnAsnGlyThrArgSerCysProAsnCysArgArgSerSerMetLysProGlyPheValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699166"
    }
  ],
  "type": "nucleotide"
}