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      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.5:c.370G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:p.Gly124Ter",
        "hgvsWellDefined": "NP_000107.1:p.Gly124_Arg292delinsAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.370G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.370G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:p.Gly124Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:p.Gly124Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916019575",
      "coordinates": [
        {
          "allele": "T",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.2:c.424G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:p.Gly142Ter",
        "hgvsWellDefined": "NP_001290394.1:p.Gly142_Arg296delinsAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387352",
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.4:c.370G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:p.Gly124Ter",
        "hgvsWellDefined": "NP_851828.1:p.Gly124_Arg262delinsAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387604",
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.4:c.370G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:p.Gly124Ter",
        "hgvsWellDefined": "NP_851829.1:p.Gly124_Arg278delinsAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387824",
      "coordinates": [
        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.4:c.370G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:p.Gly124Ter",
        "hgvsWellDefined": "NP_851830.1:p.Gly124_Arg248delinsAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "G",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.3:n.781G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701850"
    }
  ],
  "type": "nucleotide"
}