{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415179696",
  "communityStandardTitle": [
    "NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2671875[alleleid]",
        "alleleId": 2671875,
        "preferredName": "NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2506903",
        "RCV": [
          "RCV003237272"
        ],
        "variationId": 2506903
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153640476G>T?assembly=hg19",
        "id": "chrX:g.153640476G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154412139G>T?assembly=hg38",
        "id": "chrX:g.154412139G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2522924351",
        "rs": 2522924351
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154412139-G-T?dataset=gnomad_r4",
        "id": "X-154412139-G-T",
        "variant": "X:154412139 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 154412139,
          "referenceAllele": "G",
          "start": 154412138
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154412139G>T",
        "CM000685.2:g.154412139G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153640476,
          "referenceAllele": "G",
          "start": 153640475
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153640476G>T",
        "CM000685.1:g.153640476G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153293670,
          "referenceAllele": "G",
          "start": 153293669
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153293670G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5600,
          "referenceAllele": "G",
          "start": 5599
        }
      ],
      "hgvs": [
        "NG_009634.1:g.5600G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001624"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4950,
          "referenceAllele": "C",
          "start": 4949
        }
      ],
      "hgvs": [
        "NG_012884.2:g.4950C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002608"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5605,
          "referenceAllele": "G",
          "start": 5604
        }
      ],
      "hgvs": [
        "NG_009634.2:g.5605G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698234.1:n.591G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150,
          "referenceAllele": "G",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698235.1:n.150G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698317.1:n.125G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000475699.6:c.217G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419854.3:p.Glu73Ter",
        "hgvsWellDefined": "ENSP00000419854.3:p.Glu73_Arg280delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128,
          "referenceAllele": "G",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000476800.2:n.128G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757202"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 54,
          "referenceAllele": "G",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000483674.3:n.54G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000601016.6:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469981.1:p.Glu55Ter",
        "hgvsWellDefined": "ENSP00000469981.1:p.Glu55_Arg292delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.163G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.163G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:p.Glu55Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:p.Glu55Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "referenceAllele": "G",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612012.5:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482070.2:p.Glu55Ter",
        "hgvsWellDefined": "ENSP00000482070.2:p.Glu55_Arg278delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612460.5:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481037.1:p.Glu55Ter",
        "hgvsWellDefined": "ENSP00000481037.1:p.Glu55_Arg262delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 521,
          "referenceAllele": "G",
          "start": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000614595.2:n.521G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761975"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "referenceAllele": "G",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615658.5:n.476G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 217,
          "referenceAllele": "G",
          "start": 216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000616020.5:c.217G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483636.2:p.Glu73Ter",
        "hgvsWellDefined": "ENSP00000483636.2:p.Glu73_Arg296delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000617701.5:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481645.1:p.Glu55Ter",
        "hgvsWellDefined": "ENSP00000481645.1:p.Glu55_Trp95delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000621647.2:n.216G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 55,
          "endIntronDirection": "+",
          "endIntronOffset": 187,
          "referenceAllele": "G",
          "start": 55,
          "startIntronDirection": "+",
          "startIntronOffset": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652358.1:c.-57+187G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498464.1:n.-57+187G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82,
          "referenceAllele": "G",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652390.1:c.82G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498858.1:p.Glu28Ter",
        "hgvsWellDefined": "ENSP00000498858.1:p.Glu28_Arg265delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 324,
          "referenceAllele": "G",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652476.1:n.324G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 457,
          "referenceAllele": "G",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652682.1:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498288.1:p.Glu55Ter",
        "hgvsWellDefined": "ENSP00000498288.1:p.Glu55_Arg311delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysAlaSerProGlyPheGlnProAlaArgSerSerGlnHisTrpLeuGlnLysGluGlyGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 215,
          "referenceAllele": "G",
          "start": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652685.1:n.215G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 248,
          "endIntronDirection": "+",
          "endIntronOffset": 133,
          "referenceAllele": "G",
          "start": 248,
          "startIntronDirection": "+",
          "startIntronOffset": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000369776.8:c.163+133G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358791.4:n.163+133G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 177,
          "referenceAllele": "G",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000439735.2:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398193.1:p.Glu55Ter",
        "hgvsWellDefined": "ENSP00000398193.1:p.Glu55Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000475699.5:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419854.2:p.Glu55Ter",
        "hgvsWellDefined": "ENSP00000419854.2:p.Glu55_Arg278delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000601016.5:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469981.1:p.Glu55Ter",
        "hgvsWellDefined": "ENSP00000469981.1:p.Glu55_Arg292delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "referenceAllele": "G",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612012.4:c.217G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482070.1:p.Glu73Ter",
        "hgvsWellDefined": "ENSP00000482070.1:p.Glu73Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "G",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612460.4:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481037.1:p.Glu55Ter",
        "hgvsWellDefined": "ENSP00000481037.1:p.Glu55_Arg262delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000613002.4:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478154.1:p.Glu55Ter",
        "hgvsWellDefined": "ENSP00000478154.1:p.Glu55_Arg248delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 483,
          "referenceAllele": "G",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000613634.4:n.483G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000614595.1:n.382G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402268"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615658.4:n.489G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "G",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615986.4:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480133.1:p.Glu55Ter",
        "hgvsWellDefined": "ENSP00000480133.1:p.Glu55_Trp95delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000616020.4:c.217G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483636.1:p.Glu73Ter",
        "hgvsWellDefined": "ENSP00000483636.1:p.Glu73Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000617701.4:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481645.1:p.Glu55Ter",
        "hgvsWellDefined": "ENSP00000481645.1:p.Glu55_Trp95delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "G",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000620808.4:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479311.1:p.Glu55Ter",
        "hgvsWellDefined": "ENSP00000479311.1:p.Glu55_Trp95delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000621647.1:n.448G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042858",
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.4:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:p.Glu55Ter",
        "hgvsWellDefined": "NP_000107.1:p.Glu55_Arg292delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006178"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826883890",
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.1:c.217G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:p.Glu73Ter",
        "hgvsWellDefined": "NP_001290394.1:p.Glu73_Arg296delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387281",
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.3:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:p.Glu55Ter",
        "hgvsWellDefined": "NP_851828.1:p.Glu55_Arg262delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043677"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387534",
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.3:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:p.Glu55Ter",
        "hgvsWellDefined": "NP_851829.1:p.Glu55_Arg278delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387767",
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.3:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:p.Glu55Ter",
        "hgvsWellDefined": "NP_851830.1:p.Glu55_Arg248delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.2:n.489G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724836.1:c.217G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724899.1:p.Glu73Ter",
        "hgvsWellDefined": "XP_006724899.1:p.Glu73_Arg310delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724837.1:c.217G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724900.1:p.Glu73Ter",
        "hgvsWellDefined": "XP_006724900.1:p.Glu73_Arg305delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyGluProGlyAspGlyAspArgGluMetAlaSerGlyValGlyGlyLeuGlyLeuProLeuValProGlyCysProAlaProProHisValTrpProSerValHisCysAlaAlaGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724839.1:c.217G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724902.1:p.Glu73Ter",
        "hgvsWellDefined": "XP_006724902.1:p.Glu73_Arg266delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "G",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724841.2:c.-132G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724904.1:n.-132G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 147,
          "referenceAllele": "G",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724842.2:c.-132G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724905.1:n.-132G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531189.1:c.217G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529491.1:p.Glu73Ter",
        "hgvsWellDefined": "XP_011529491.1:p.Glu73_Arg239delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XR_938511.1:n.520G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "referenceAllele": "G",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724841.4:c.-132G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724904.1:n.-132G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "referenceAllele": "G",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724842.4:c.-132G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724905.1:n.-132G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029761.1:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885250.1:p.Glu55Ter",
        "hgvsWellDefined": "XP_016885250.1:p.Glu55_Arg287delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyGluProGlyAspGlyAspArgGluMetAlaSerGlyValGlyGlyLeuGlyLeuProLeuValProGlyCysProAlaProProHisValTrpProSerValHisCysAlaAlaGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029762.1:c.217G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885251.1:p.Glu73Ter",
        "hgvsWellDefined": "XP_016885251.1:p.Glu73_Arg280delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 466,
          "referenceAllele": "G",
          "start": 465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029763.1:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885252.1:p.Glu55Ter",
        "hgvsWellDefined": "XP_016885252.1:p.Glu55_Arg221delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 357,
          "referenceAllele": "G",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029765.2:c.-132G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885254.1:n.-132G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_024452431.1:c.217G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308199.1:p.Glu73Ter",
        "hgvsWellDefined": "XP_024308199.1:p.Glu73_Arg278delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyGluProGlyAspGlyAspArgGluMetAlaSerGlyValGlyGlyLeuGlyLeuProLeuValProGlyCysProAlaProProHisValTrpProSerValHisCysAlaAlaGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585924"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825042858",
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.5:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:p.Glu55Ter",
        "hgvsWellDefined": "NP_000107.1:p.Glu55_Arg292delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.163G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.163G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:p.Glu55Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:p.Glu55Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826883890",
      "coordinates": [
        {
          "allele": "T",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.2:c.217G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:p.Glu73Ter",
        "hgvsWellDefined": "NP_001290394.1:p.Glu73_Arg296delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387281",
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.4:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:p.Glu55Ter",
        "hgvsWellDefined": "NP_851828.1:p.Glu55_Arg262delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyLysValAsnMetSerSerGluPheLeuArgPheLysTrpGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700929"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387534",
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.4:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:p.Glu55Ter",
        "hgvsWellDefined": "NP_851829.1:p.Glu55_Arg278delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAlaGluPhePheGlnAlaGluAsnGluGlyLysGlyValLeuAspThrGlyArgHisMetProGlyAlaGlyLysArgArgGluLysGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387767",
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.4:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:p.Glu55Ter",
        "hgvsWellDefined": "NP_851830.1:p.Glu55_Arg248delinsLysArgGlyProAlaThrProLeuIleThrValSerAsnHisGlnSerCysMetAspAspProHisLeuTrpGlyIleLeuLysLeuArgHisIleTrpAsnLeuLysLeuMetArgTrpThrProAlaAlaAlaAspIleCysPheThrLysGluLeuHisSerHisPhePheSerLeuGlyLysCysValProValCysArgGlyAspGlyValTyrGlnLysGlyMetAspPheIleLeuGluLysLeuAsnHisGlyAspTrpValHisIlePheProGluGlyIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "G",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.3:n.468G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701850"
    }
  ],
  "type": "nucleotide"
}