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        "hgvsWellDefined": "XP_024304529.1:p.Gln143_His330delinsAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582329"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829477483",
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_003977.4:c.427C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003968.3:p.Gln143Ter",
        "hgvsWellDefined": "NP_003968.3:p.Gln143_His330delinsAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666271",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000279146.8:c.427C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003977.4:c.427C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000279146.3:p.Gln143Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003968.3:p.Gln143Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826876007",
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302960.2:c.427C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289889.1:p.Gln143Ter",
        "hgvsWellDefined": "NP_001289889.1:p.Gln143_Gly283delinsAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysGlnArgGlnGlyLeuLeuGlnAlaGlyGlnGlyProArgGlyArgValGluCysProGlyGlyProGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683502"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741854378",
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000358",
      "geneNCBI_id": 9049,
      "geneSymbol": "AIP",
      "hgvs": [
        "NM_001302959.2:c.250C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001289888.1:p.Gln84Ter",
        "hgvsWellDefined": "NP_001289888.1:p.Gln84_His271delinsAsnProGlnProLeuIlePheHisMetGluMetLeuLysValGluSerProGlyThrTyrGlnGlnAspProTrpAlaMetThrAspGluGluLysAlaLysAlaValProLeuIleHisGlnGluGlyAsnArgLeuTyrArgGluGlyHisValLysGluAlaAlaAlaLysTyrTyrAspAlaIleAlaCysLeuLysAsnLeuGlnMetLysGluGlnProGlySerProGluTrpIleGlnLeuAspGlnGlnIleThrProLeuLeuLeuAsnTyrCysGlnCysLysLeuValValGluGluTyrTyrGluValLeuAspHisCysSerSerIleLeuAsnLysTyrAspAspAsnValLysAlaTyrPheLysArgGlyLysAlaHisAlaAlaValTrpAsnAlaGlnGluAlaGlnAlaAspPheAlaLysValLeuGluLeuAspProAlaLeuAlaProValValSerArgGluLeuArgAlaLeuGluAlaArgIleArgGlnLysAspGluGluAspLysAlaArgPheArgGlyIlePheSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717004"
    }
  ],
  "type": "nucleotide"
}