{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10351623",
  "communityStandardTitle": [
    "NM_003611.3(OFD1):c.503A>G (p.Asn168Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1941971[alleleid]",
        "alleleId": 1941971,
        "preferredName": "NM_003611.3(OFD1):c.503A>G (p.Asn168Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2420672",
        "RCV": [
          "RCV003121837"
        ],
        "variationId": 2420672
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-13762624-A-G",
        "id": "X-13762624-A-G",
        "variant": "X:13762624 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.13762624A>G?assembly=hg19",
        "id": "chrX:g.13762624A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.13744505A>G?assembly=hg38",
        "id": "chrX:g.13744505A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780064168",
        "rs": 780064168
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-13762624-A-G?dataset=gnomad_r2_1",
        "id": "X-13762624-A-G",
        "variant": "X:13762624 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-13744505-A-G?dataset=gnomad_r3",
        "id": "X-13744505-A-G",
        "variant": "X:13744505 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-13744505-A-G?dataset=gnomad_r4",
        "id": "X-13744505-A-G",
        "variant": "X:13744505 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 13744505,
          "referenceAllele": "A",
          "start": 13744504
        }
      ],
      "hgvs": [
        "NC_000023.11:g.13744505A>G",
        "CM000685.2:g.13744505A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 13762624,
          "referenceAllele": "A",
          "start": 13762623
        }
      ],
      "hgvs": [
        "NC_000023.10:g.13762624A>G",
        "CM000685.1:g.13762624A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 13672545,
          "referenceAllele": "A",
          "start": 13672544
        }
      ],
      "hgvs": [
        "NC_000023.9:g.13672545A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14793,
          "referenceAllele": "A",
          "start": 14792
        }
      ],
      "hgvs": [
        "NG_008872.1:g.14793A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001267"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 955,
          "referenceAllele": "A",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.6:c.*196A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.2:n.*196A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 802,
          "referenceAllele": "A",
          "start": 801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.8:c.*196A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.5:n.*196A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 786,
          "referenceAllele": "A",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000464463.6:n.786A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 365,
          "referenceAllele": "A",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.6:n.365A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "referenceAllele": "A",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682237.1:c.503A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507121.1:p.Asn168Ser",
        "hgvsWellDefined": "ENSP00000507121.1:p.Asn168Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 854,
          "referenceAllele": "A",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682562.1:c.*196A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507874.1:n.*196A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1007,
          "referenceAllele": "A",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682953.1:c.*566A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507878.1:n.*566A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 548,
          "endIntronDirection": "-",
          "endIntronOffset": 1813,
          "referenceAllele": "A",
          "start": 548,
          "startIntronDirection": "-",
          "startIntronOffset": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683055.1:c.413-1814A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508191.1:n.413-1814A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "referenceAllele": "A",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683284.1:c.*70A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507837.1:n.*70A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
          "referenceAllele": "A",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683427.1:c.503A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507290.1:p.Asn168Ser",
        "hgvsWellDefined": "ENSP00000507290.1:p.Asn168Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 517,
          "referenceAllele": "A",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683454.1:n.517A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828430"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 948,
          "referenceAllele": "A",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683637.1:n.948A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683655.1:c.503A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506770.1:p.Asn168Ser",
        "hgvsWellDefined": "ENSP00000506770.1:p.Asn168Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 729,
          "referenceAllele": "A",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683713.1:c.*70A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507797.1:n.*70A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 955,
          "referenceAllele": "A",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000684577.1:c.*196A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507871.1:n.*196A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 827,
          "referenceAllele": "A",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.11:c.503A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:p.Asn168Ser",
        "hgvsWellDefined": "ENSP00000344314.6:p.Asn168Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.503A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.503A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Asn168Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Asn168Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 830,
          "referenceAllele": "A",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.10:c.503A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:p.Asn168Ser",
        "hgvsWellDefined": "ENSP00000344314.6:p.Asn168Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261020"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 677,
          "referenceAllele": "A",
          "start": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380550.6:c.503A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369923.3:p.Asn168Ser",
        "hgvsWellDefined": "ENSP00000369923.3:p.Asn168Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 955,
          "referenceAllele": "A",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.5:c.83A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.1:p.Asn28Ser",
        "hgvsWellDefined": "ENSP00000369941.1:p.Asn28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 800,
          "referenceAllele": "A",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.7:c.92A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.4:p.Asn31Ser",
        "hgvsWellDefined": "ENSP00000381432.4:p.Asn31Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 814,
          "referenceAllele": "A",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.5:n.814A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829459808",
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.2:c.503A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Asn168Ser",
        "hgvsWellDefined": "NP_003602.1:p.Asn168Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 861,
          "referenceAllele": "A",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274599.2:c.524A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274656.1:p.Asn175Ser",
        "hgvsWellDefined": "XP_005274656.1:p.Asn175Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 861,
          "referenceAllele": "A",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274602.2:c.524A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274659.1:p.Asn175Ser",
        "hgvsWellDefined": "XP_005274659.1:p.Asn175Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 861,
          "referenceAllele": "A",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274603.2:c.524A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274660.1:p.Asn175Ser",
        "hgvsWellDefined": "XP_005274660.1:p.Asn175Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274604.2:c.503A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274661.1:p.Asn168Ser",
        "hgvsWellDefined": "XP_005274661.1:p.Asn168Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1034,
          "referenceAllele": "A",
          "start": 1033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.2:c.359A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:p.Asn120Ser",
        "hgvsWellDefined": "XP_005274663.1:p.Asn120Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 184,
          "referenceAllele": "A",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274607.3:c.83A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274664.1:p.Asn28Ser",
        "hgvsWellDefined": "XP_005274664.1:p.Asn28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 861,
          "referenceAllele": "A",
          "start": 860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545591.1:c.524A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543893.1:p.Asn175Ser",
        "hgvsWellDefined": "XP_011543893.1:p.Asn175Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 856,
          "referenceAllele": "A",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.1:c.311A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:p.Asn104Ser",
        "hgvsWellDefined": "XP_011543894.1:p.Asn104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545593.1:c.524A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543895.1:p.Asn175Ser",
        "hgvsWellDefined": "XP_011543895.1:p.Asn175Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 303,
          "referenceAllele": "A",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.1:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:p.Asn61Ser",
        "hgvsWellDefined": "XP_011543896.1:p.Asn61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 293,
          "referenceAllele": "A",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545595.1:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543897.1:p.Asn61Ser",
        "hgvsWellDefined": "XP_011543897.1:p.Asn61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112495"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "referenceAllele": "A",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545596.1:c.524A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543898.1:p.Asn175Ser",
        "hgvsWellDefined": "XP_011543898.1:p.Asn175Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "referenceAllele": "A",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.1:c.83A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:p.Asn28Ser",
        "hgvsWellDefined": "XP_011543899.1:p.Asn28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
          "referenceAllele": "A",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XR_247288.2:n.863A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827332513",
      "coordinates": [
        {
          "allele": "G",
          "end": 862,
          "referenceAllele": "A",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.1:c.503A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:p.Asn168Ser",
        "hgvsWellDefined": "NP_001317138.1:p.Asn168Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580202166",
      "coordinates": [
        {
          "allele": "G",
          "end": 987,
          "referenceAllele": "A",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.1:c.83A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Asn28Ser",
        "hgvsWellDefined": "NP_001317139.1:p.Asn28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1038,
          "referenceAllele": "A",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.4:c.359A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:p.Asn120Ser",
        "hgvsWellDefined": "XP_005274663.1:p.Asn120Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 860,
          "referenceAllele": "A",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.3:c.311A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:p.Asn104Ser",
        "hgvsWellDefined": "XP_011543894.1:p.Asn104Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 276,
          "referenceAllele": "A",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.3:c.182A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:p.Asn61Ser",
        "hgvsWellDefined": "XP_011543896.1:p.Asn61Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 918,
          "referenceAllele": "A",
          "start": 917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.2:c.83A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:p.Asn28Ser",
        "hgvsWellDefined": "XP_011543899.1:p.Asn28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556161"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "A",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029909.1:c.83A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885398.1:p.Asn28Ser",
        "hgvsWellDefined": "XP_016885398.1:p.Asn28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "A",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452468.1:c.-1437A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308236.1:n.-1437A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1036,
          "referenceAllele": "A",
          "start": 1035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452469.1:c.-1437A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308237.1:n.-1437A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "A",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452470.1:c.-1437A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308238.1:n.-1437A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 793,
          "referenceAllele": "A",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452471.1:c.-1437A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308239.1:n.-1437A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829459808",
      "coordinates": [
        {
          "allele": "G",
          "end": 827,
          "referenceAllele": "A",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.3:c.503A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Asn168Ser",
        "hgvsWellDefined": "NP_003602.1:p.Asn168Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.503A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.503A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Asn168Ser"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Asn168Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827332513",
      "coordinates": [
        {
          "allele": "G",
          "end": 827,
          "referenceAllele": "A",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.2:c.503A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:p.Asn168Ser",
        "hgvsWellDefined": "NP_001317138.1:p.Asn168Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580202166",
      "coordinates": [
        {
          "allele": "G",
          "end": 952,
          "referenceAllele": "A",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.2:c.83A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Asn28Ser",
        "hgvsWellDefined": "NP_001317139.1:p.Asn28Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718632"
    }
  ],
  "type": "nucleotide"
}