{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA415184012",
  "communityStandardTitle": [
    "NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=550110[alleleid]",
        "alleleId": 550110,
        "preferredName": "NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/559336",
        "RCV": [
          "RCV000676908",
          "RCV001844221"
        ],
        "variationId": 559336
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153648085G>T?assembly=hg19",
        "id": "chrX:g.153648085G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154419746G>T?assembly=hg38",
        "id": "chrX:g.154419746G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/878853656",
        "rs": 878853656
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 154419746,
          "referenceAllele": "G",
          "start": 154419745
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154419746G>T",
        "CM000685.2:g.154419746G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153648085,
          "referenceAllele": "G",
          "start": 153648084
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153648085G>T",
        "CM000685.1:g.153648085G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 153301279,
          "referenceAllele": "G",
          "start": 153301278
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153301279G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13209,
          "referenceAllele": "G",
          "start": 13208
        }
      ],
      "hgvs": [
        "NG_009634.1:g.13209G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13212,
          "referenceAllele": "G",
          "start": 13211
        }
      ],
      "hgvs": [
        "NG_009634.2:g.13212G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1108,
          "referenceAllele": "G",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698234.1:n.1108G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1724,
          "referenceAllele": "G",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698317.1:n.1724G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1507,
          "referenceAllele": "G",
          "start": 1506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698318.1:n.1507G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 870,
          "referenceAllele": "G",
          "start": 869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698319.1:n.870G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 758,
          "referenceAllele": "G",
          "start": 757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698320.1:n.758G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 771,
          "referenceAllele": "G",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000470127.2:n.771G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 838,
          "referenceAllele": "G",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000475699.6:c.547G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419854.3:p.Gly183Ter",
        "hgvsWellDefined": "ENSP00000419854.3:p.Gly183_Arg280delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 465,
          "referenceAllele": "G",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000483674.3:n.465G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "G",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000601016.6:c.583G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469981.1:p.Gly195Ter",
        "hgvsWellDefined": "ENSP00000469981.1:p.Gly195_Arg292delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.583G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.583G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:p.Gly195Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:p.Gly195Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 735,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 735,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612012.5:c.541+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482070.2:n.541+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612460.5:c.493G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481037.1:p.Gly165Ter",
        "hgvsWellDefined": "ENSP00000481037.1:p.Gly165_Arg262delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761877"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1930,
          "referenceAllele": "G",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000614595.2:n.1930G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761975"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "G",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615658.5:n.887G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 595,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000616020.5:c.595+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483636.2:n.595+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000617701.5:c.*311G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481645.1:n.*311G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 451,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652354.1:c.265+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498734.1:n.265+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "G",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652358.1:c.376G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498464.1:p.Gly126Ter",
        "hgvsWellDefined": "ENSP00000498464.1:p.Gly126_Arg223delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "G",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652390.1:c.502G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498858.1:p.Gly168Ter",
        "hgvsWellDefined": "ENSP00000498858.1:p.Gly168_Arg265delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 964,
          "referenceAllele": "G",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652476.1:n.964G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652644.1:c.196G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498496.1:p.Gly66Ter",
        "hgvsWellDefined": "ENSP00000498496.1:p.Gly66_Arg163delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 934,
          "referenceAllele": "G",
          "start": 933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652682.1:c.640G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498288.1:p.Gly214Ter",
        "hgvsWellDefined": "ENSP00000498288.1:p.Gly214_Arg311delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "G",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652685.1:n.651G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 461,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000369776.8:c.376+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358791.4:n.376+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "referenceAllele": "G",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000426231.5:c.580G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "referenceAllele": "G",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000439735.2:c.490G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398193.1:p.Gly164Ter",
        "hgvsWellDefined": "ENSP00000398193.1:p.Gly164Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 162,
          "referenceAllele": "G",
          "start": 161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000470127.1:n.162G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 844,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000475699.5:c.541+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419854.2:n.541+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "referenceAllele": "G",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000476679.5:n.577G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "G",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000483780.5:n.348G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1272,
          "referenceAllele": "G",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000494912.5:n.1272G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 871,
          "referenceAllele": "G",
          "start": 870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000601016.5:c.583G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469981.1:p.Gly195Ter",
        "hgvsWellDefined": "ENSP00000469981.1:p.Gly195_Arg292delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 835,
          "referenceAllele": "G",
          "start": 834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612012.4:c.547G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482070.1:p.Gly183Ter",
        "hgvsWellDefined": "ENSP00000482070.1:p.Gly183Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 781,
          "referenceAllele": "G",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612460.4:c.493G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481037.1:p.Gly165Ter",
        "hgvsWellDefined": "ENSP00000481037.1:p.Gly165_Arg262delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 754,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 754,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000613002.4:c.451+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478154.1:n.451+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "referenceAllele": "G",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000613634.4:n.813G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 987,
          "referenceAllele": "G",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615658.4:n.987G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "G",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615986.4:c.*311G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480133.1:n.*311G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "endIntronDirection": "-",
          "endIntronOffset": 285,
          "referenceAllele": "G",
          "start": 727,
          "startIntronDirection": "-",
          "startIntronOffset": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000620808.4:c.*170-286G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479311.1:n.*170-286G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404991"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825296",
      "coordinates": [
        {
          "allele": "T",
          "end": 909,
          "referenceAllele": "G",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.4:c.583G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:p.Gly195Ter",
        "hgvsWellDefined": "NP_000107.1:p.Gly195_Arg292delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 921,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 921,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.1:c.595+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:n.595+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387390",
      "coordinates": [
        {
          "allele": "T",
          "end": 819,
          "referenceAllele": "G",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.3:c.493G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:p.Gly165Ter",
        "hgvsWellDefined": "NP_851828.1:p.Gly165_Arg262delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 867,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 867,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.3:c.541+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:n.541+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 777,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 777,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.3:c.451+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:n.451+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 925,
          "referenceAllele": "G",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.2:n.925G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "G",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724836.1:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724899.1:p.Gly213Ter",
        "hgvsWellDefined": "XP_006724899.1:p.Gly213_Arg310delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 808,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724837.1:c.505+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724900.1:n.505+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 808,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 808,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724839.1:c.505+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724902.1:n.505+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 654,
          "referenceAllele": "G",
          "start": 653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724841.2:c.376G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724904.1:p.Gly126Ter",
        "hgvsWellDefined": "XP_006724904.1:p.Gly126_Arg223delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "G",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724842.2:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724905.1:p.Gly96Ter",
        "hgvsWellDefined": "XP_006724905.1:p.Gly96_Arg193delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "endIntronDirection": "-",
          "endIntronOffset": 285,
          "referenceAllele": "G",
          "start": 727,
          "startIntronDirection": "-",
          "startIntronOffset": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531189.1:c.425-286G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529491.1:n.425-286G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1182,
          "referenceAllele": "G",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531190.1:c.376G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529492.1:p.Gly126Ter",
        "hgvsWellDefined": "XP_011529492.1:p.Gly126_Arg223delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "G",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531191.1:c.307G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529493.1:p.Gly103Ter",
        "hgvsWellDefined": "XP_011529493.1:p.Gly103_Arg200delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1212,
          "referenceAllele": "G",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531192.1:c.304G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529494.1:p.Gly102Ter",
        "hgvsWellDefined": "XP_011529494.1:p.Gly102_Arg199delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 931,
          "referenceAllele": "G",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XR_938511.1:n.931G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724841.4:c.376G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724904.1:p.Gly126Ter",
        "hgvsWellDefined": "XP_006724904.1:p.Gly126_Arg223delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541081"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "referenceAllele": "G",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724842.4:c.286G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724905.1:p.Gly96Ter",
        "hgvsWellDefined": "XP_006724905.1:p.Gly96_Arg193delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541082"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "referenceAllele": "G",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531191.2:c.307G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529493.1:p.Gly103Ter",
        "hgvsWellDefined": "XP_011529493.1:p.Gly103_Arg200delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550270"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 754,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 754,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029761.1:c.451+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885250.1:n.451+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "G",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029762.1:c.547G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885251.1:p.Gly183Ter",
        "hgvsWellDefined": "XP_016885251.1:p.Gly183_Arg280delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 673,
          "endIntronDirection": "-",
          "endIntronOffset": 285,
          "referenceAllele": "G",
          "start": 673,
          "startIntronDirection": "-",
          "startIntronOffset": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029763.1:c.371-286G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885252.1:n.371-286G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "G",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029764.1:c.304G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885253.1:p.Gly102Ter",
        "hgvsWellDefined": "XP_016885253.1:p.Gly102_Arg199delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 732,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 732,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029765.2:c.244+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885254.1:n.244+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "endIntronDirection": "-",
          "endIntronOffset": 285,
          "referenceAllele": "G",
          "start": 727,
          "startIntronDirection": "-",
          "startIntronOffset": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_024452431.1:c.425-286G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308199.1:n.425-286G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585924"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825296",
      "coordinates": [
        {
          "allele": "T",
          "end": 888,
          "referenceAllele": "G",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.5:c.583G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:p.Gly195Ter",
        "hgvsWellDefined": "NP_000107.1:p.Gly195_Arg292delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.583G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.583G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:p.Gly195Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:p.Gly195Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 900,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.2:c.595+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:n.595+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683598"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830387390",
      "coordinates": [
        {
          "allele": "T",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.4:c.493G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:p.Gly165Ter",
        "hgvsWellDefined": "NP_851828.1:p.Gly165_Arg262delinsIleGlyArgLeuIleAlaGluCysHisLeuAsnProIleIleLeuProLeuTrpHisValGlyMetAsnAspValLeuProAsnSerProProTyrPheProArgPheGlyGlnLysIleThrValLeuIleGlyLysProPheSerAlaLeuProValLeuGluArgLeuArgAlaGluAsnLysSerAlaValGluMetArgLysAlaLeuThrAspPheIleGlnGluGluPheGlnHisLeuLysThrGlnAlaGluGlnLeuHisAsnHisLeuGlnProGlyArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 846,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.4:c.541+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:n.541+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 756,
          "endIntronDirection": "+",
          "endIntronOffset": 123,
          "referenceAllele": "G",
          "start": 756,
          "startIntronDirection": "+",
          "startIntronOffset": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.4:c.451+123G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:n.451+123G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 904,
          "referenceAllele": "G",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.3:n.904G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701850"
    }
  ],
  "type": "nucleotide"
}