{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA515466785",
  "communityStandardTitle": [
    "NM_003611.3(OFD1):c.2508G>A (p.Arg836=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2015344[alleleid]",
        "alleleId": 2015344,
        "preferredName": "NM_003611.3(OFD1):c.2508G>A (p.Arg836=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1956498",
        "RCV": [
          "RCV002700889",
          "RCV004529165"
        ],
        "variationId": 1956498
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.13781883G>A?assembly=hg19",
        "id": "chrX:g.13781883G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2048023499",
        "rs": 2048023499
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-13763764-G-A?dataset=gnomad_r4",
        "id": "X-13763764-G-A",
        "variant": "X:13763764 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 13763764,
          "referenceAllele": "G",
          "start": 13763763
        }
      ],
      "hgvs": [
        "NC_000023.11:g.13763764G>A",
        "CM000685.2:g.13763764G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 13781883,
          "referenceAllele": "G",
          "start": 13781882
        }
      ],
      "hgvs": [
        "NC_000023.10:g.13781883G>A",
        "CM000685.1:g.13781883G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 13691804,
          "referenceAllele": "G",
          "start": 13691803
        }
      ],
      "hgvs": [
        "NC_000023.9:g.13691804G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34052,
          "referenceAllele": "G",
          "start": 34051
        }
      ],
      "hgvs": [
        "NG_008872.1:g.34052G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001267"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2960,
          "referenceAllele": "G",
          "start": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.6:c.*2201G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.2:n.*2201G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2575,
          "referenceAllele": "G",
          "start": 2574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.8:c.*1969G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.5:n.*1969G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4337,
          "referenceAllele": "G",
          "start": 4336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000464463.6:n.4337G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3037,
          "referenceAllele": "G",
          "start": 3036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.6:n.3037G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3483,
          "referenceAllele": "G",
          "start": 3482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682237.1:c.*2068G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507121.1:n.*2068G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4548,
          "endIntronDirection": "+",
          "endIntronOffset": 1320,
          "referenceAllele": "G",
          "start": 4548,
          "startIntronDirection": "+",
          "startIntronOffset": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682562.1:c.*3890+1320G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507874.1:n.*3890+1320G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3656,
          "endIntronDirection": "+",
          "endIntronOffset": 1320,
          "referenceAllele": "G",
          "start": 3656,
          "startIntronDirection": "+",
          "startIntronOffset": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682953.1:c.*3215+1320G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507878.1:n.*3215+1320G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4445,
          "endIntronDirection": "+",
          "endIntronOffset": 1320,
          "referenceAllele": "G",
          "start": 4445,
          "startIntronDirection": "+",
          "startIntronOffset": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683055.1:c.*3469+1320G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508191.1:n.*3469+1320G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3320,
          "referenceAllele": "G",
          "start": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683284.1:c.*2739G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507837.1:n.*2739G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2436,
          "referenceAllele": "G",
          "start": 2435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683427.1:c.*1165G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507290.1:n.*1165G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2522,
          "referenceAllele": "G",
          "start": 2521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683454.1:n.2522G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3617,
          "referenceAllele": "G",
          "start": 3616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683637.1:n.3617G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3651,
          "referenceAllele": "G",
          "start": 3650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683655.1:c.*2722G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506770.1:n.*2722G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828626"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3398,
          "referenceAllele": "G",
          "start": 3397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683713.1:c.*2739G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507797.1:n.*2739G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828684"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2944,
          "endIntronDirection": "+",
          "endIntronOffset": 1320,
          "referenceAllele": "G",
          "start": 2944,
          "startIntronDirection": "+",
          "startIntronOffset": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000684577.1:c.*2185+1320G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507871.1:n.*2185+1320G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829529"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2832,
          "referenceAllele": "G",
          "start": 2831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.11:c.2508G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:p.Arg836="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.2508G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.2508G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Arg836="
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Arg836="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2835,
          "referenceAllele": "G",
          "start": 2834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.10:c.2508G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:p.Arg836="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2562,
          "referenceAllele": "G",
          "start": 2561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380550.6:c.2388G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369923.3:p.Arg796="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272973"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2960,
          "referenceAllele": "G",
          "start": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.5:c.2088G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.1:p.Arg696="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2573,
          "referenceAllele": "G",
          "start": 2572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.7:c.*848G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.4:n.*848G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 309,
          "endIntronDirection": "+",
          "endIntronOffset": 1320,
          "referenceAllele": "G",
          "start": 309,
          "startIntronDirection": "+",
          "startIntronOffset": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000464463.5:n.309+1320G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308287"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3483,
          "referenceAllele": "G",
          "start": 3482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.5:n.3483G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829459949",
      "coordinates": [
        {
          "allele": "A",
          "end": 2867,
          "referenceAllele": "G",
          "start": 2866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.2:c.2508G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Arg836="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028841"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2866,
          "referenceAllele": "G",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274599.2:c.2529G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274656.1:p.Arg843="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2846,
          "endIntronDirection": "+",
          "endIntronOffset": 1320,
          "referenceAllele": "G",
          "start": 2846,
          "startIntronDirection": "+",
          "startIntronOffset": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274602.2:c.2509+1320G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274659.1:n.2509+1320G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2746,
          "referenceAllele": "G",
          "start": 2745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274603.2:c.2409G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274660.1:p.Arg803="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2747,
          "referenceAllele": "G",
          "start": 2746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274604.2:c.2388G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274661.1:p.Arg796="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3039,
          "referenceAllele": "G",
          "start": 3038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.2:c.2364G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:p.Arg788="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2189,
          "referenceAllele": "G",
          "start": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274607.3:c.2088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274664.1:p.Arg696="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2866,
          "referenceAllele": "G",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545591.1:c.2529G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543893.1:p.Arg843="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "referenceAllele": "G",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.1:c.2316G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2867,
          "referenceAllele": "G",
          "start": 2866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545593.1:c.2529G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543895.1:p.Arg843="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2308,
          "referenceAllele": "G",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.1:c.2187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:p.Arg729="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2298,
          "referenceAllele": "G",
          "start": 2297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545595.1:c.2187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543897.1:p.Arg729="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112495"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2848,
          "endIntronDirection": "+",
          "endIntronOffset": 1320,
          "referenceAllele": "G",
          "start": 2848,
          "startIntronDirection": "+",
          "startIntronOffset": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545596.1:c.2509+1320G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543898.1:n.2509+1320G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2903,
          "endIntronDirection": "+",
          "endIntronOffset": 1320,
          "referenceAllele": "G",
          "start": 2903,
          "startIntronDirection": "+",
          "startIntronOffset": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.1:c.2068+1320G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:n.2068+1320G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545598.1:c.1233G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543900.1:p.Arg411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2868,
          "referenceAllele": "G",
          "start": 2867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XR_247288.2:n.2868G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827332995",
      "coordinates": [
        {
          "allele": "A",
          "end": 2747,
          "referenceAllele": "G",
          "start": 2746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.1:c.2388G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:p.Arg796="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827334124",
      "coordinates": [
        {
          "allele": "A",
          "end": 2992,
          "referenceAllele": "G",
          "start": 2991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.1:c.2088G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Arg696="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3043,
          "referenceAllele": "G",
          "start": 3042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.4:c.2364G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:p.Arg788="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2865,
          "referenceAllele": "G",
          "start": 2864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.3:c.2316G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:p.Arg772="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2281,
          "referenceAllele": "G",
          "start": 2280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.3:c.2187G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:p.Arg729="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2903,
          "endIntronDirection": "+",
          "endIntronOffset": 1320,
          "referenceAllele": "G",
          "start": 2903,
          "startIntronDirection": "+",
          "startIntronOffset": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.2:c.2068+1320G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:n.2068+1320G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556161"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2443,
          "referenceAllele": "G",
          "start": 2442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029909.1:c.2088G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885398.1:p.Arg696="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1688,
          "referenceAllele": "G",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029911.1:c.1566G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885400.1:p.Arg522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3505,
          "referenceAllele": "G",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452468.1:c.1233G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308236.1:p.Arg411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3705,
          "referenceAllele": "G",
          "start": 3704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452469.1:c.1233G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308237.1:p.Arg411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585962"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3338,
          "referenceAllele": "G",
          "start": 3337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452470.1:c.1233G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308238.1:p.Arg411="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3442,
          "endIntronDirection": "+",
          "endIntronOffset": 1320,
          "referenceAllele": "G",
          "start": 3442,
          "startIntronDirection": "+",
          "startIntronOffset": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452471.1:c.1213+1320G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308239.1:n.1213+1320G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829459949",
      "coordinates": [
        {
          "allele": "A",
          "end": 2832,
          "referenceAllele": "G",
          "start": 2831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.3:c.2508G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Arg836="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.2508G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.2508G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Arg836="
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Arg836="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827332995",
      "coordinates": [
        {
          "allele": "A",
          "end": 2712,
          "referenceAllele": "G",
          "start": 2711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.2:c.2388G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:p.Arg796="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827334124",
      "coordinates": [
        {
          "allele": "A",
          "end": 2957,
          "referenceAllele": "G",
          "start": 2956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.2:c.2088G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Arg696="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718632"
    }
  ],
  "type": "nucleotide"
}