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      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Tyr336Ter",
        "hgvsWellDefined": "NP_000523.2:p.Tyr336_Leu539delinsAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580158973",
      "coordinates": [
        {
          "allele": "G",
          "end": 1119,
          "referenceAllele": "T",
          "start": 1118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.1:c.1068T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Tyr356Ter",
        "hgvsWellDefined": "NP_001171485.1:p.Tyr356_Leu559delinsAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1059,
          "referenceAllele": "T",
          "start": 1058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "XM_011512873.1:c.1008T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511175.1:p.Tyr336Ter",
        "hgvsWellDefined": "XP_011511175.1:p.Tyr336_Pro387delinsAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyLysGluProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "T",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "XM_011512873.2:c.1008T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511175.1:p.Tyr336Ter",
        "hgvsWellDefined": "XP_011511175.1:p.Tyr336_Pro387delinsAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerAspSerIleSerPheThrProTrpAsnTyrAlaArgArgGlnTyrArgProTyrPheAlaGlyLysGluProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825187874",
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "T",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_000532.5:c.1008T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000523.2:p.Tyr336Ter",
        "hgvsWellDefined": "NP_000523.2:p.Tyr336_Leu539delinsAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000251654.9:c.1008T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000532.5:c.1008T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000251654.4:p.Tyr336Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000523.2:p.Tyr336Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580158973",
      "coordinates": [
        {
          "allele": "G",
          "end": 1104,
          "referenceAllele": "T",
          "start": 1103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NM_001178014.2:c.1068T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171485.1:p.Tyr356Ter",
        "hgvsWellDefined": "NP_001171485.1:p.Tyr356_Leu559delinsAlaLysAsnIleIleValGlyPheAlaArgMetAsnGlyArgThrValGlyIleValGlyAsnGlnProLysValAlaSerGlyCysLeuAspIleAsnSerSerValLysGlyAlaArgPheValArgPheCysAspAlaPheAsnIleProLeuIleThrPheValAspValProGlyPheLeuProGlyThrAlaGlnGluTyrGlyGlyIleIleArgHisGlyAlaLysLeuLeuTyrAlaPheAlaGluAlaThrValProLysValThrValIleThrArgLysAlaTyrGlyGlyAlaTyrAspValMetSerSerLysHisLeuCysGlyAspThrAsnTyrAlaTrpProThrAlaGluIleAlaValMetGlyAlaLysGlyAlaValGluIleIlePheLysGlyHisGluAsnValGluAlaAlaGlnAlaGluTyrIleGluLysPheAlaAsnProPheProAlaAlaValArgGlyPheValAspAspIleIleGlnProSerSerThrArgAlaArgIleCysCysAspLeuAspValLeuAlaSerLysLysValGlnArgProTrpArgLysHisAlaAsnIleProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713549"
    }
  ],
  "type": "nucleotide"
}