{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA131103",
  "communityStandardTitle": [
    "NM_000116.5(TAFAZZIN):c.371-13C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51428[alleleid]",
        "alleleId": 51428,
        "preferredName": "NM_000116.5(TAFAZZIN):c.371-13C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42258",
        "RCV": [
          "RCV000035091",
          "RCV002513349"
        ],
        "variationId": 42258
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153642425C>G?assembly=hg19",
        "id": "chrX:g.153642425C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154414088C>G?assembly=hg38",
        "id": "chrX:g.154414088C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515742",
        "rs": 397515742
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154414088-C-G?dataset=gnomad_r4",
        "id": "X-154414088-C-G",
        "variant": "X:154414088 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 154414088,
          "referenceAllele": "C",
          "start": 154414087
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154414088C>G",
        "CM000685.2:g.154414088C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153642425,
          "referenceAllele": "C",
          "start": 153642424
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153642425C>G",
        "CM000685.1:g.153642425C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153295619,
          "referenceAllele": "C",
          "start": 153295618
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153295619C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7549,
          "referenceAllele": "C",
          "start": 7548
        }
      ],
      "hgvs": [
        "NG_009634.1:g.7549C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001624"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3001,
          "referenceAllele": "G",
          "start": 3000
        }
      ],
      "hgvs": [
        "NG_012884.2:g.3001G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002608"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7554,
          "referenceAllele": "C",
          "start": 7553
        }
      ],
      "hgvs": [
        "NG_009634.2:g.7554C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706097"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 904,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698234.1:n.904+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 965,
          "referenceAllele": "C",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698235.1:n.965C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909246"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1430,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1430,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698317.1:n.1431-13C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909309"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1303,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 1303,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000698318.1:n.1303+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909310"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 648,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 648,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000470127.2:n.648+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 715,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 715,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000475699.6:c.424+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419854.3:n.424+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757161"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1556,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 1556,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000476800.2:n.1557-13C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757202"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 261,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 261,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000483674.3:n.261+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757444"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 675,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000601016.6:c.371-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469981.1:n.371-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761529",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.371-13C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.371-13C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:n.371-13C>G"
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:n.371-13C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 564,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 564,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612012.5:c.371-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482070.2:n.371-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 675,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612460.5:c.370+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481037.1:n.370+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1807,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 1807,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000614595.2:n.1807+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761975"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 683,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 683,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615658.5:n.683+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 424,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 424,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000616020.5:c.425-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483636.2:n.425-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 758,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 758,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000617701.5:c.*188+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481645.1:n.*188+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1173,
          "referenceAllele": "C",
          "start": 1172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000621647.2:n.1173C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS762335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 280,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 280,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652354.1:c.95-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498734.1:n.95-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 274,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652358.1:c.164-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498464.1:n.164-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 289,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 289,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652390.1:c.290-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498858.1:n.290-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 760,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 760,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652476.1:n.760+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 16,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 16,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652644.1:c.16+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498496.1:n.16+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 664,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652682.1:c.371-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498288.1:n.371-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 528,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 528,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000652685.1:n.528+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 380,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 380,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000369776.8:c.295+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358791.4:n.295+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 286,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 286,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000426231.5:c.287-13C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS289127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 384,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 384,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000439735.2:c.370+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398193.1:n.370+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 39,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 39,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000470127.1:n.39+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 673,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000475699.5:c.371-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419854.2:n.371-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316922"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 283,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 283,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000476679.5:n.284-13C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 477,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 477,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000476800.1:n.478-13C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 79,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 79,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000483674.2:n.79+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 144,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 144,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000483780.5:n.144+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 658,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 658,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000601016.5:c.371-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469981.1:n.371-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS397544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 712,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 712,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612012.4:c.424+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482070.1:n.424+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 658,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 658,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000612460.4:c.370+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481037.1:n.370+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 673,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000613002.4:c.370+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478154.1:n.370+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401555"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 690,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 690,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000613634.4:n.690+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS401832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615658.4:n.783+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS402711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 759,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 759,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000615986.4:c.*188+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480133.1:n.*188+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402857"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000616020.4:c.425-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483636.1:n.425-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402877"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "ENST00000620808.4:c.*169+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479311.1:n.*169+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 696,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.4:c.371-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:n.371-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 750,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.1:c.425-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:n.425-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 696,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.3:c.370+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:n.370+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 696,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.3:c.371-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:n.371-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 696,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.3:c.370+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:n.370+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 802,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 802,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.2:n.802+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724836.1:c.425-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724899.1:n.425-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075736"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724837.1:c.424+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724900.1:n.424+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724839.1:c.424+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724902.1:n.424+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 441,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724841.2:c.164-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724904.1:n.164-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 441,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 441,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724842.2:c.163+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724905.1:n.163+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531189.1:c.424+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529491.1:n.424+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 969,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 969,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531190.1:c.164-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529492.1:n.164-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 880,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 880,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531191.1:c.95-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529493.1:n.95-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 999,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 999,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531192.1:c.92-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529494.1:n.92-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XR_938511.1:n.727+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133209"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 651,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724841.4:c.164-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724904.1:n.164-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541081"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 651,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_006724842.4:c.163+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724905.1:n.163+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 886,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_011531191.2:c.95-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529493.1:n.95-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550270"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 673,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029761.1:c.370+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885250.1:n.370+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579256"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029762.1:c.424+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885251.1:n.424+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579257"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 673,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 673,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029763.1:c.370+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885252.1:n.370+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 225,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 225,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029764.1:c.92-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885253.1:n.92-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 651,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_017029765.2:c.163+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885254.1:n.163+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 727,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 727,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "XM_024452431.1:c.424+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308199.1:n.424+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585924"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 675,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_000116.5:c.371-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000107.1:n.371-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000601016.6:c.371-13C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000116.5:c.371-13C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469981.1:n.371-13C>G"
          },
          "RefSeq": {
            "hgvs": "NP_000107.1:n.371-13C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 729,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 729,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_001303465.2:c.425-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001290394.1:n.425-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683598"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 675,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181311.4:c.370+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_851828.1:n.370+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700929"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "endIntronDirection": "-",
          "endIntronOffset": 12,
          "referenceAllele": "C",
          "start": 675,
          "startIntronDirection": "-",
          "startIntronOffset": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181312.4:c.371-13C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_851829.1:n.371-13C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 675,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NM_181313.4:c.370+521C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_851830.1:n.370+521C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 781,
          "endIntronDirection": "+",
          "endIntronOffset": 521,
          "referenceAllele": "C",
          "start": 781,
          "startIntronDirection": "+",
          "startIntronOffset": 520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NR_024048.3:n.781+521C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701850"
    }
  ],
  "type": "nucleotide"
}