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        }
      ],
      "hgvs": [
        "XR_947632.1:n.1136-3244G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1246,
          "endIntronDirection": "-",
          "endIntronOffset": 3243,
          "referenceAllele": "G",
          "start": 1246,
          "startIntronDirection": "-",
          "startIntronOffset": 3244
        }
      ],
      "hgvs": [
        "XR_947633.1:n.1247-3244G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "endIntronDirection": "-",
          "endIntronOffset": 3243,
          "referenceAllele": "G",
          "start": 660,
          "startIntronDirection": "-",
          "startIntronOffset": 3244
        }
      ],
      "hgvs": [
        "XR_947634.1:n.661-3244G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141214"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 728,
          "endIntronDirection": "-",
          "endIntronOffset": 3243,
          "referenceAllele": "G",
          "start": 728,
          "startIntronDirection": "-",
          "startIntronOffset": 3244
        }
      ],
      "hgvs": [
        "XR_947635.1:n.729-3244G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS141215"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4404,
          "referenceAllele": "C",
          "start": 4403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_005270557.2:c.4311C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270614.1:p.Tyr1437Ter",
        "hgvsWellDefined": "XP_005270614.1:p.Tyr1437_Leu1532delinsAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2639,
          "referenceAllele": "C",
          "start": 2638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_017000501.2:c.2571C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855990.1:p.Tyr857Ter",
        "hgvsWellDefined": "XP_016855990.1:p.Tyr857_Leu952delinsAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825220073",
      "coordinates": [
        {
          "allele": "G",
          "end": 4434,
          "referenceAllele": "C",
          "start": 4433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000642.3:c.4311C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000633.2:p.Tyr1437Ter",
        "hgvsWellDefined": "NP_000633.2:p.Tyr1437_Leu1532delinsAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361915.8:c.4311C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000642.3:c.4311C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355106.3:p.Tyr1437Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000633.2:p.Tyr1437Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}