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      "proteinEffect": {
        "hgvs": "NP_000107.1:p.Glu250Ter",
        "hgvsWellDefined": "NP_000107.1:p.Glu250_Arg292delinsArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.748G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.748G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:p.Glu250Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:p.Glu250Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741854677",
      "coordinates": [
        {
          "allele": "T",
          "end": 1065,
          "referenceAllele": "G",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.2:c.760G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:p.Glu254Ter",
        "hgvsWellDefined": "NP_001290394.1:p.Glu254_Arg296delinsArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387444",
      "coordinates": [
        {
          "allele": "T",
          "end": 963,
          "referenceAllele": "G",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.4:c.658G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:p.Glu220Ter",
        "hgvsWellDefined": "NP_851828.1:p.Glu220_Arg262delinsArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387696",
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.4:c.706G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:p.Glu236Ter",
        "hgvsWellDefined": "NP_851829.1:p.Glu236_Arg278delinsArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387900",
      "coordinates": [
        {
          "allele": "T",
          "end": 921,
          "referenceAllele": "G",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.4:c.616G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:p.Glu206Ter",
        "hgvsWellDefined": "NP_851830.1:p.Glu206_Arg248delinsArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1069,
          "referenceAllele": "G",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.3:n.1069G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701850"
    }
  ],
  "type": "nucleotide"
}