{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA658658929",
  "communityStandardTitle": [
    "NM_003611.3(OFD1):c.2261-6C>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=471312[alleleid]",
        "alleleId": 471312,
        "preferredName": "NM_003611.3(OFD1):c.2261-6C>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/463454",
        "RCV": [
          "RCV000533164"
        ],
        "variationId": 463454
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.13779198C>G?assembly=hg19",
        "id": "chrX:g.13779198C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.13761079C>G?assembly=hg38",
        "id": "chrX:g.13761079C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769923969",
        "rs": 769923969
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 13761079,
          "referenceAllele": "C",
          "start": 13761078
        }
      ],
      "hgvs": [
        "NC_000023.11:g.13761079C>G",
        "CM000685.2:g.13761079C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 13779198,
          "referenceAllele": "C",
          "start": 13779197
        }
      ],
      "hgvs": [
        "NC_000023.10:g.13779198C>G",
        "CM000685.1:g.13779198C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 13689119,
          "referenceAllele": "C",
          "start": 13689118
        }
      ],
      "hgvs": [
        "NC_000023.9:g.13689119C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31367,
          "referenceAllele": "C",
          "start": 31366
        }
      ],
      "hgvs": [
        "NG_008872.1:g.31367C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001267"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2712,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2712,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.6:c.*1954-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.2:n.*1954-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2327,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2327,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.8:c.*1722-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.5:n.*1722-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4089,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 4089,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000464463.6:n.4090-6C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2789,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2789,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.6:n.2790-6C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3235,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3235,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682237.1:c.*1821-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507121.1:n.*1821-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4320,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 4320,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682562.1:c.*3663-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507874.1:n.*3663-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3428,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3428,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682953.1:c.*2988-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507878.1:n.*2988-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4217,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 4217,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683055.1:c.*3242-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508191.1:n.*3242-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3072,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3072,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683284.1:c.*2492-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507837.1:n.*2492-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2188,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2188,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683427.1:c.*918-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507290.1:n.*918-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2274,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2274,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683454.1:n.2275-6C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828430"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3369,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3369,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683637.1:n.3370-6C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3403,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3403,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683655.1:c.*2475-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506770.1:n.*2475-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3150,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3150,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683713.1:c.*2492-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507797.1:n.*2492-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2716,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2716,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000684577.1:c.*1958-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507871.1:n.*1958-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2584,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2584,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.11:c.2261-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:n.2261-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.2261-6C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.2261-6C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:n.2261-6C>G"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:n.2261-6C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2587,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2587,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.10:c.2261-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:n.2261-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2314,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2314,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380550.6:c.2141-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369923.3:n.2141-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2712,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2712,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.5:c.1841-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.1:n.1841-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2325,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2325,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.7:c.*601-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.4:n.*601-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 81,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 81,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000464463.5:n.82-6C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3235,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3235,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.5:n.3236-6C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2619,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2619,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.2:c.2261-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:n.2261-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2618,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2618,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274599.2:c.2282-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274656.1:n.2282-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2618,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2618,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274602.2:c.2282-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274659.1:n.2282-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2498,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2498,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274603.2:c.2162-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274660.1:n.2162-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2499,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2499,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274604.2:c.2141-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274661.1:n.2141-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2791,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2791,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.2:c.2117-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:n.2117-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1941,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1941,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274607.3:c.1841-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274664.1:n.1841-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2618,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2618,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545591.1:c.2282-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543893.1:n.2282-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2613,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2613,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.1:c.2069-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:n.2069-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2619,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2619,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545593.1:c.2282-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543895.1:n.2282-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2060,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2060,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.1:c.1940-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:n.1940-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2050,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2050,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545595.1:c.1940-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543897.1:n.1940-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112495"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2620,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2620,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545596.1:c.2282-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543898.1:n.2282-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2675,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2675,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.1:c.1841-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:n.1841-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1118,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1118,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545598.1:c.986-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543900.1:n.986-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112498"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2620,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2620,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XR_247288.2:n.2621-6C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2499,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2499,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.1:c.2141-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:n.2141-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2744,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2744,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.1:c.1841-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:n.1841-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2795,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2795,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.4:c.2117-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:n.2117-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2617,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2617,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.3:c.2069-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:n.2069-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2033,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2033,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.3:c.1940-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:n.1940-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2675,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2675,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.2:c.1841-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:n.1841-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556161"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2195,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2195,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029909.1:c.1841-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885398.1:n.1841-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1440,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1440,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029911.1:c.1319-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885400.1:n.1319-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3257,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3257,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452468.1:c.986-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308236.1:n.986-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3457,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3457,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452469.1:c.986-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308237.1:n.986-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3090,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3090,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452470.1:c.986-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308238.1:n.986-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3214,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3214,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452471.1:c.986-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308239.1:n.986-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2584,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2584,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.3:c.2261-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:n.2261-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.2261-6C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.2261-6C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:n.2261-6C>G"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:n.2261-6C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2464,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2464,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.2:c.2141-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:n.2141-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718631"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2709,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2709,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.2:c.1841-6C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:n.1841-6C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718632"
    }
  ],
  "type": "nucleotide"
}