{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412342710",
  "communityStandardTitle": [
    "NM_003611.3(OFD1):c.1305T>G (p.Ser435Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.13774780T>G?assembly=hg19",
        "id": "chrX:g.13774780T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.13756661T>G?assembly=hg38",
        "id": "chrX:g.13756661T>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 13756661,
          "referenceAllele": "T",
          "start": 13756660
        }
      ],
      "hgvs": [
        "NC_000023.11:g.13756661T>G",
        "CM000685.2:g.13756661T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 13774780,
          "referenceAllele": "T",
          "start": 13774779
        }
      ],
      "hgvs": [
        "NC_000023.10:g.13774780T>G",
        "CM000685.1:g.13774780T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 13684701,
          "referenceAllele": "T",
          "start": 13684700
        }
      ],
      "hgvs": [
        "NC_000023.9:g.13684701T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 26949,
          "referenceAllele": "T",
          "start": 26948
        }
      ],
      "hgvs": [
        "NG_008872.1:g.26949T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001267"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1757,
          "referenceAllele": "T",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.6:c.*998T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.2:n.*998T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1484,
          "referenceAllele": "T",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.8:c.*878T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.5:n.*878T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1468,
          "referenceAllele": "T",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000464463.6:n.1468T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1834,
          "referenceAllele": "T",
          "start": 1833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.6:n.1834T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2280,
          "referenceAllele": "T",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682237.1:c.*865T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507121.1:n.*865T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3365,
          "referenceAllele": "T",
          "start": 3364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682562.1:c.*2707T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507874.1:n.*2707T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2473,
          "referenceAllele": "T",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682953.1:c.*2032T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507878.1:n.*2032T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1050,
          "referenceAllele": "T",
          "start": 1049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683055.1:c.*74T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508191.1:n.*74T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2117,
          "referenceAllele": "T",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683284.1:c.*1536T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507837.1:n.*1536T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1345,
          "referenceAllele": "T",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683427.1:c.*74T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507290.1:n.*74T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1319,
          "referenceAllele": "T",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683454.1:n.1319T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828430"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2414,
          "referenceAllele": "T",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683637.1:n.2414T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2448,
          "referenceAllele": "T",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683655.1:c.*1519T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506770.1:n.*1519T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2195,
          "referenceAllele": "T",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683713.1:c.*1536T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507797.1:n.*1536T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1757,
          "referenceAllele": "T",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000684577.1:c.*998T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507871.1:n.*998T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1629,
          "referenceAllele": "T",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.11:c.1305T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:p.Ser435Arg",
        "hgvsWellDefined": "ENSP00000344314.6:p.Ser435Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.1305T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.1305T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Ser435Arg"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Ser435Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1632,
          "referenceAllele": "T",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.10:c.1305T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:p.Ser435Arg",
        "hgvsWellDefined": "ENSP00000344314.6:p.Ser435Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1359,
          "referenceAllele": "T",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380550.6:c.1185T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369923.3:p.Ser395Arg",
        "hgvsWellDefined": "ENSP00000369923.3:p.Ser395Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1757,
          "referenceAllele": "T",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.5:c.885T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.1:p.Ser295Arg",
        "hgvsWellDefined": "ENSP00000369941.1:p.Ser295Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1482,
          "referenceAllele": "T",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.7:c.774T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.4:p.Ser258Arg",
        "hgvsWellDefined": "ENSP00000381432.4:p.Ser258Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2280,
          "referenceAllele": "T",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.5:n.2280T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111408",
      "coordinates": [
        {
          "allele": "G",
          "end": 1664,
          "referenceAllele": "T",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.2:c.1305T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Ser435Arg",
        "hgvsWellDefined": "NP_003602.1:p.Ser435Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1663,
          "referenceAllele": "T",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274599.2:c.1326T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274656.1:p.Ser442Arg",
        "hgvsWellDefined": "XP_005274656.1:p.Ser442Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1663,
          "referenceAllele": "T",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274602.2:c.1326T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274659.1:p.Ser442Arg",
        "hgvsWellDefined": "XP_005274659.1:p.Ser442Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1543,
          "referenceAllele": "T",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274603.2:c.1206T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274660.1:p.Ser402Arg",
        "hgvsWellDefined": "XP_005274660.1:p.Ser402Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1544,
          "referenceAllele": "T",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274604.2:c.1185T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274661.1:p.Ser395Arg",
        "hgvsWellDefined": "XP_005274661.1:p.Ser395Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1836,
          "referenceAllele": "T",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.2:c.1161T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:p.Ser387Arg",
        "hgvsWellDefined": "XP_005274663.1:p.Ser387Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 986,
          "referenceAllele": "T",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274607.3:c.885T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274664.1:p.Ser295Arg",
        "hgvsWellDefined": "XP_005274664.1:p.Ser295Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1663,
          "referenceAllele": "T",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545591.1:c.1326T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543893.1:p.Ser442Arg",
        "hgvsWellDefined": "XP_011543893.1:p.Ser442Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1658,
          "referenceAllele": "T",
          "start": 1657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.1:c.1113T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:p.Ser371Arg",
        "hgvsWellDefined": "XP_011543894.1:p.Ser371Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1664,
          "referenceAllele": "T",
          "start": 1663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545593.1:c.1326T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543895.1:p.Ser442Arg",
        "hgvsWellDefined": "XP_011543895.1:p.Ser442Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1105,
          "referenceAllele": "T",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.1:c.984T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:p.Ser328Arg",
        "hgvsWellDefined": "XP_011543896.1:p.Ser328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1095,
          "referenceAllele": "T",
          "start": 1094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545595.1:c.984T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543897.1:p.Ser328Arg",
        "hgvsWellDefined": "XP_011543897.1:p.Ser328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112495"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1665,
          "referenceAllele": "T",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545596.1:c.1326T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543898.1:p.Ser442Arg",
        "hgvsWellDefined": "XP_011543898.1:p.Ser442Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1720,
          "referenceAllele": "T",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.1:c.885T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:p.Ser295Arg",
        "hgvsWellDefined": "XP_011543899.1:p.Ser295Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 163,
          "referenceAllele": "T",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545598.1:c.30T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543900.1:p.Ser10Arg",
        "hgvsWellDefined": "XP_011543900.1:p.Ser10Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112498"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1665,
          "referenceAllele": "T",
          "start": 1664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XR_247288.2:n.1665T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827332662",
      "coordinates": [
        {
          "allele": "G",
          "end": 1544,
          "referenceAllele": "T",
          "start": 1543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.1:c.1185T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:p.Ser395Arg",
        "hgvsWellDefined": "NP_001317138.1:p.Ser395Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827333551",
      "coordinates": [
        {
          "allele": "G",
          "end": 1789,
          "referenceAllele": "T",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.1:c.885T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Ser295Arg",
        "hgvsWellDefined": "NP_001317139.1:p.Ser295Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1840,
          "referenceAllele": "T",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.4:c.1161T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:p.Ser387Arg",
        "hgvsWellDefined": "XP_005274663.1:p.Ser387Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1662,
          "referenceAllele": "T",
          "start": 1661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.3:c.1113T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:p.Ser371Arg",
        "hgvsWellDefined": "XP_011543894.1:p.Ser371Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1078,
          "referenceAllele": "T",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.3:c.984T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:p.Ser328Arg",
        "hgvsWellDefined": "XP_011543896.1:p.Ser328Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1720,
          "referenceAllele": "T",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.2:c.885T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:p.Ser295Arg",
        "hgvsWellDefined": "XP_011543899.1:p.Ser295Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556161"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1240,
          "referenceAllele": "T",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029909.1:c.885T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885398.1:p.Ser295Arg",
        "hgvsWellDefined": "XP_016885398.1:p.Ser295Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 485,
          "referenceAllele": "T",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029911.1:c.363T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885400.1:p.Ser121Arg",
        "hgvsWellDefined": "XP_016885400.1:p.Ser121Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2302,
          "referenceAllele": "T",
          "start": 2301
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452468.1:c.30T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308236.1:p.Ser10Arg",
        "hgvsWellDefined": "XP_024308236.1:p.Ser10Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2502,
          "referenceAllele": "T",
          "start": 2501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452469.1:c.30T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308237.1:p.Ser10Arg",
        "hgvsWellDefined": "XP_024308237.1:p.Ser10Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2135,
          "referenceAllele": "T",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452470.1:c.30T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308238.1:p.Ser10Arg",
        "hgvsWellDefined": "XP_024308238.1:p.Ser10Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2259,
          "referenceAllele": "T",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452471.1:c.30T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308239.1:p.Ser10Arg",
        "hgvsWellDefined": "XP_024308239.1:p.Ser10Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA111408",
      "coordinates": [
        {
          "allele": "G",
          "end": 1629,
          "referenceAllele": "T",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.3:c.1305T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Ser435Arg",
        "hgvsWellDefined": "NP_003602.1:p.Ser435Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.1305T>G"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.1305T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Ser435Arg"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Ser435Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827332662",
      "coordinates": [
        {
          "allele": "G",
          "end": 1509,
          "referenceAllele": "T",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.2:c.1185T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:p.Ser395Arg",
        "hgvsWellDefined": "NP_001317138.1:p.Ser395Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827333551",
      "coordinates": [
        {
          "allele": "G",
          "end": 1754,
          "referenceAllele": "T",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.2:c.885T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Ser295Arg",
        "hgvsWellDefined": "NP_001317139.1:p.Ser295Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718632"
    }
  ],
  "type": "nucleotide"
}