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      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_003977.4:c.503G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003968.3:p.Trp168Ter",
        "hgvsWellDefined": "NP_003968.3:p.Trp168_His330delinsAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666271",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000279146.8:c.503G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003977.4:c.503G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000279146.3:p.Trp168Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003968.3:p.Trp168Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826876061",
      "coordinates": [
        {
          "allele": "A",
          "end": 636,
          "referenceAllele": "G",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302960.2:c.503G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289889.1:p.Trp168Ter",
        "hgvsWellDefined": "NP_001289889.1:p.Trp168_Gly283delinsAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysGlnArgGlnGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683502"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826875332",
      "coordinates": [
        {
          "allele": "A",
          "end": 599,
          "referenceAllele": "G",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302959.2:c.326G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289888.1:p.Trp109Ter",
        "hgvsWellDefined": "NP_001289888.1:p.Trp109_His271delinsAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717004"
    }
  ],
  "type": "nucleotide"
}