{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA116584",
  "communityStandardTitle": [
    "NM_206965.2(FTCD):c.403C>T (p.Arg135Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19056[alleleid]",
        "alleleId": 19056,
        "preferredName": "NM_206965.2(FTCD):c.403C>T (p.Arg135Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4017",
        "RCV": [
          "RCV000004232"
        ],
        "variationId": 4017
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.47571859G>A?assembly=hg19",
        "id": "chr21:g.47571859G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr21:g.46151945G>A?assembly=hg38",
        "id": "chr21:g.46151945G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28941768",
        "rs": 28941768
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-47571859-G-A?dataset=gnomad_r2_1",
        "id": "21-47571859-G-A",
        "variant": "21:47571859 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-46151945-G-A?dataset=gnomad_r3",
        "id": "21-46151945-G-A",
        "variant": "21:46151945 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/21-46151945-G-A?dataset=gnomad_r4",
        "id": "21-46151945-G-A",
        "variant": "21:46151945 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 46151945,
          "referenceAllele": "G",
          "start": 46151944
        }
      ],
      "hgvs": [
        "NC_000021.9:g.46151945G>A",
        "CM000683.2:g.46151945G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 47571859,
          "referenceAllele": "G",
          "start": 47571858
        }
      ],
      "hgvs": [
        "NC_000021.8:g.47571859G>A",
        "CM000683.1:g.47571859G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "A",
          "end": 46396287,
          "referenceAllele": "G",
          "start": 46396286
        }
      ],
      "hgvs": [
        "NC_000021.7:g.46396287G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8623,
          "referenceAllele": "C",
          "start": 8622
        }
      ],
      "hgvs": [
        "NG_016191.1:g.8623C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002997"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "ENST00000397746.8:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380854.3:p.Arg135Cys",
        "hgvsWellDefined": "ENSP00000380854.3:p.Arg135Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397746.8:c.403C>T"
          },
          "RefSeq": {
            "hgvs": "NM_206965.2:c.403C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380854.3:p.Arg135Cys"
          },
          "RefSeq": {
            "hgvs": "NP_996848.1:p.Arg135Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "ENST00000291670.9:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000291670.5:p.Arg135Cys",
        "hgvsWellDefined": "ENSP00000291670.5:p.Arg135Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "ENST00000397743.1:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380851.1:p.Arg135Cys",
        "hgvsWellDefined": "ENSP00000380851.1:p.Arg135Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "ENST00000397746.7:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380854.3:p.Arg135Cys",
        "hgvsWellDefined": "ENSP00000380854.3:p.Arg135Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "ENST00000397748.5:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380856.1:p.Arg135Cys",
        "hgvsWellDefined": "ENSP00000380856.1:p.Arg135Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 472,
          "referenceAllele": "C",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "ENST00000498355.6:n.472C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110774",
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "NM_006657.2:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006648.1:p.Arg135Cys",
        "hgvsWellDefined": "NP_006648.1:p.Arg135Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031654"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916073794",
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "NM_206965.1:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996848.1:p.Arg135Cys",
        "hgvsWellDefined": "NP_996848.1:p.Arg135Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_006723961.2:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724024.2:p.Arg175Cys",
        "hgvsWellDefined": "XP_006724024.2:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_006723962.2:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724025.2:p.Arg175Cys",
        "hgvsWellDefined": "XP_006724025.2:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 736,
          "referenceAllele": "C",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_011529434.1:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527736.1:p.Arg175Cys",
        "hgvsWellDefined": "XP_011527736.1:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 724,
          "referenceAllele": "C",
          "start": 723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_011529435.1:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527737.1:p.Arg175Cys",
        "hgvsWellDefined": "XP_011527737.1:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "referenceAllele": "C",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_011529436.1:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527738.1:p.Arg175Cys",
        "hgvsWellDefined": "XP_011527738.1:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_011529437.1:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527739.1:p.Arg175Cys",
        "hgvsWellDefined": "XP_011527739.1:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_011529438.1:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527740.1:p.Arg175Cys",
        "hgvsWellDefined": "XP_011527740.1:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150,
          "referenceAllele": "C",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_011529439.1:c.10C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527741.1:p.Arg4Cys",
        "hgvsWellDefined": "XP_011527741.1:p.Arg4Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_011529440.1:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527742.1:p.Arg175Cys",
        "hgvsWellDefined": "XP_011527742.1:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 706,
          "referenceAllele": "C",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XR_937433.1:n.706C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS132354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827044658",
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "NM_001320412.1:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307341.1:p.Arg135Cys",
        "hgvsWellDefined": "NP_001307341.1:p.Arg135Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513579"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 385,
          "endIntronDirection": "+",
          "endIntronOffset": 186,
          "referenceAllele": "G",
          "start": 385,
          "startIntronDirection": "+",
          "startIntronOffset": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040243",
      "geneNCBI_id": 100861507,
      "geneSymbol": "FTCD-AS1",
      "hgvs": [
        "NM_001350598.1:c.225+186G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337527.1:n.225+186G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_006723961.4:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724024.2:p.Arg175Cys",
        "hgvsWellDefined": "XP_006724024.2:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_006723962.4:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724025.2:p.Arg175Cys",
        "hgvsWellDefined": "XP_006724025.2:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1362,
          "referenceAllele": "C",
          "start": 1361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_011529434.3:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527736.1:p.Arg175Cys",
        "hgvsWellDefined": "XP_011527736.1:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549500"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 746,
          "referenceAllele": "C",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_011529435.3:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527737.1:p.Arg175Cys",
        "hgvsWellDefined": "XP_011527737.1:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_011529436.3:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527738.1:p.Arg175Cys",
        "hgvsWellDefined": "XP_011527738.1:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 741,
          "referenceAllele": "C",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_011529437.3:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527739.1:p.Arg175Cys",
        "hgvsWellDefined": "XP_011527739.1:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549503"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 150,
          "referenceAllele": "C",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_011529439.2:c.10C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527741.1:p.Arg4Cys",
        "hgvsWellDefined": "XP_011527741.1:p.Arg4Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XM_011529440.3:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527742.1:p.Arg175Cys",
        "hgvsWellDefined": "XP_011527742.1:p.Arg175Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "XR_937433.3:n.740C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611625"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916073794",
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "NM_206965.2:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996848.1:p.Arg135Cys",
        "hgvsWellDefined": "NP_996848.1:p.Arg135Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397746.8:c.403C>T"
          },
          "RefSeq": {
            "hgvs": "NM_206965.2:c.403C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380854.3:p.Arg135Cys"
          },
          "RefSeq": {
            "hgvs": "NP_996848.1:p.Arg135Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827044658",
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "NM_001320412.2:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307341.1:p.Arg135Cys",
        "hgvsWellDefined": "NP_001307341.1:p.Arg135Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684913"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110774",
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003974",
      "geneNCBI_id": 10841,
      "geneSymbol": "FTCD",
      "hgvs": [
        "NM_006657.3:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006648.1:p.Arg135Cys",
        "hgvsWellDefined": "NP_006648.1:p.Arg135Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696780"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 146,
          "endIntronDirection": "+",
          "endIntronOffset": 186,
          "referenceAllele": "G",
          "start": 146,
          "startIntronDirection": "+",
          "startIntronOffset": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040243",
      "geneNCBI_id": 100861507,
      "geneSymbol": "FTCD-AS1",
      "hgvs": [
        "NR_170989.1:n.146+186G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS732917"
    }
  ],
  "type": "nucleotide"
}