{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5453276",
  "communityStandardTitle": [
    "NM_018076.5(ODAD2):c.2218T>C (p.Trp740Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=459761[alleleid]",
        "alleleId": 459761,
        "preferredName": "NM_018076.5(ODAD2):c.2218T>C (p.Trp740Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/474580",
        "RCV": [
          "RCV000538381",
          "RCV002461335"
        ],
        "variationId": 474580
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-28225689-A-G",
        "id": "10-28225689-A-G",
        "variant": "10:28225689 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.28225689A>G?assembly=hg19",
        "id": "chr10:g.28225689A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.27936760A>G?assembly=hg38",
        "id": "chr10:g.27936760A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148764188",
        "rs": 148764188
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-28225689-A-G?dataset=gnomad_r2_1",
        "id": "10-28225689-A-G",
        "variant": "10:28225689 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-27936760-A-G?dataset=gnomad_r3",
        "id": "10-27936760-A-G",
        "variant": "10:27936760 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-27936760-A-G?dataset=gnomad_r4",
        "id": "10-27936760-A-G",
        "variant": "10:27936760 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 27936760,
          "referenceAllele": "A",
          "start": 27936759
        }
      ],
      "hgvs": [
        "NC_000010.11:g.27936760A>G",
        "CM000672.2:g.27936760A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 28225689,
          "referenceAllele": "A",
          "start": 28225688
        }
      ],
      "hgvs": [
        "NC_000010.10:g.28225689A>G",
        "CM000672.1:g.28225689A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 28265695,
          "referenceAllele": "A",
          "start": 28265694
        }
      ],
      "hgvs": [
        "NC_000010.9:g.28265695A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67291,
          "referenceAllele": "T",
          "start": 67290
        }
      ],
      "hgvs": [
        "NG_042820.1:g.67291T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006022"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2342,
          "referenceAllele": "T",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "ENST00000305242.10:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306410.5:p.Trp740Arg",
        "hgvsWellDefined": "ENSP00000306410.5:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745184",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305242.10:c.2218T>C"
          },
          "RefSeq": {
            "hgvs": "NM_018076.5:c.2218T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306410.5:p.Trp740Arg"
          },
          "RefSeq": {
            "hgvs": "NP_060546.2:p.Trp740Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1577,
          "referenceAllele": "T",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "ENST00000672841.1:c.1294T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499983.1:p.Trp432Arg",
        "hgvsWellDefined": "ENSP00000499983.1:p.Trp432Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "T",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "ENST00000672877.1:c.793T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500120.1:p.Trp265Arg",
        "hgvsWellDefined": "ENSP00000500120.1:p.Trp265Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1909,
          "referenceAllele": "T",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "ENST00000673384.1:c.1294T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500856.1:p.Trp432Arg",
        "hgvsWellDefined": "ENSP00000500856.1:p.Trp432Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773663"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2316,
          "referenceAllele": "T",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "ENST00000673439.1:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500782.1:p.Trp740Arg",
        "hgvsWellDefined": "ENSP00000500782.1:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773680"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2311,
          "referenceAllele": "T",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "ENST00000305242.9:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000306410.5:p.Trp740Arg",
        "hgvsWellDefined": "ENSP00000306410.5:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255570"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826772611",
      "coordinates": [
        {
          "allele": "C",
          "end": 2360,
          "referenceAllele": "T",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_001290020.1:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276949.1:p.Trp740Arg",
        "hgvsWellDefined": "NP_001276949.1:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023980"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826772817",
      "coordinates": [
        {
          "allele": "C",
          "end": 1186,
          "referenceAllele": "T",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_001290021.1:c.793T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276950.1:p.Trp265Arg",
        "hgvsWellDefined": "NP_001276950.1:p.Trp265Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023981"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826943983",
      "coordinates": [
        {
          "allele": "C",
          "end": 1577,
          "referenceAllele": "T",
          "start": 1576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_001312689.1:c.1294T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001299618.1:p.Trp432Arg",
        "hgvsWellDefined": "NP_001299618.1:p.Trp432Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658669669",
      "coordinates": [
        {
          "allele": "C",
          "end": 2318,
          "referenceAllele": "T",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_018076.3:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060546.2:p.Trp740Arg",
        "hgvsWellDefined": "NP_060546.2:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658669669",
      "coordinates": [
        {
          "allele": "C",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_018076.4:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060546.2:p.Trp740Arg",
        "hgvsWellDefined": "NP_060546.2:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035426"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2426,
          "referenceAllele": "T",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_011519526.1:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517828.1:p.Trp740Arg",
        "hgvsWellDefined": "XP_011517828.1:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086699"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2360,
          "referenceAllele": "T",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_011519527.1:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517829.1:p.Trp740Arg",
        "hgvsWellDefined": "XP_011517829.1:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086700"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3010,
          "referenceAllele": "T",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_011519528.1:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517830.1:p.Trp740Arg",
        "hgvsWellDefined": "XP_011517830.1:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086701"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2330,
          "referenceAllele": "T",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_011519529.1:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517831.1:p.Trp740Arg",
        "hgvsWellDefined": "XP_011517831.1:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2426,
          "referenceAllele": "T",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_011519530.1:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517832.1:p.Trp740Arg",
        "hgvsWellDefined": "XP_011517832.1:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086703"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2426,
          "referenceAllele": "T",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_011519531.1:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517833.1:p.Trp740Arg",
        "hgvsWellDefined": "XP_011517833.1:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086704"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2216,
          "referenceAllele": "T",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_011519532.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517834.1:p.Trp670Arg",
        "hgvsWellDefined": "XP_011517834.1:p.Trp670Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1535,
          "referenceAllele": "T",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_011519533.1:c.1294T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517835.1:p.Trp432Arg",
        "hgvsWellDefined": "XP_011517835.1:p.Trp432Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1488,
          "referenceAllele": "T",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_011519534.1:c.1294T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517836.1:p.Trp432Arg",
        "hgvsWellDefined": "XP_011517836.1:p.Trp432Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086707"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1417,
          "referenceAllele": "T",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_011519535.1:c.1132T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517837.1:p.Trp378Arg",
        "hgvsWellDefined": "XP_011517837.1:p.Trp378Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1063,
          "referenceAllele": "T",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_011519537.1:c.793T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517839.1:p.Trp265Arg",
        "hgvsWellDefined": "XP_011517839.1:p.Trp265Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2360,
          "referenceAllele": "T",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_024448049.1:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303817.1:p.Trp740Arg",
        "hgvsWellDefined": "XP_024303817.1:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2433,
          "referenceAllele": "T",
          "start": 2432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_024448050.1:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303818.1:p.Trp740Arg",
        "hgvsWellDefined": "XP_024303818.1:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2335,
          "referenceAllele": "T",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_024448051.1:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303819.1:p.Trp740Arg",
        "hgvsWellDefined": "XP_024303819.1:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2272,
          "referenceAllele": "T",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_024448052.1:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303820.1:p.Trp740Arg",
        "hgvsWellDefined": "XP_024303820.1:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581632"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2360,
          "referenceAllele": "T",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_024448053.1:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303821.1:p.Trp740Arg",
        "hgvsWellDefined": "XP_024303821.1:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2150,
          "referenceAllele": "T",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_024448054.1:c.2008T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303822.1:p.Trp670Arg",
        "hgvsWellDefined": "XP_024303822.1:p.Trp670Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "referenceAllele": "T",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_024448055.1:c.1294T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303823.1:p.Trp432Arg",
        "hgvsWellDefined": "XP_024303823.1:p.Trp432Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1673,
          "referenceAllele": "T",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_024448056.1:c.1294T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303824.1:p.Trp432Arg",
        "hgvsWellDefined": "XP_024303824.1:p.Trp432Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1421,
          "referenceAllele": "T",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_024448057.1:c.1132T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303825.1:p.Trp378Arg",
        "hgvsWellDefined": "XP_024303825.1:p.Trp378Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581637"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1099,
          "referenceAllele": "T",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "XM_024448058.1:c.793T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303826.1:p.Trp265Arg",
        "hgvsWellDefined": "XP_024303826.1:p.Trp265Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581638"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826772611",
      "coordinates": [
        {
          "allele": "C",
          "end": 2351,
          "referenceAllele": "T",
          "start": 2350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_001290020.2:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276949.1:p.Trp740Arg",
        "hgvsWellDefined": "NP_001276949.1:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682684"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826772817",
      "coordinates": [
        {
          "allele": "C",
          "end": 1140,
          "referenceAllele": "T",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_001290021.2:c.793T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001276950.1:p.Trp265Arg",
        "hgvsWellDefined": "NP_001276950.1:p.Trp265Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826943983",
      "coordinates": [
        {
          "allele": "C",
          "end": 1481,
          "referenceAllele": "T",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_001312689.2:c.1294T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001299618.1:p.Trp432Arg",
        "hgvsWellDefined": "NP_001299618.1:p.Trp432Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684094"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658669669",
      "coordinates": [
        {
          "allele": "C",
          "end": 2342,
          "referenceAllele": "T",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025583",
      "geneNCBI_id": 55130,
      "geneSymbol": "ODAD2",
      "hgvs": [
        "NM_018076.5:c.2218T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060546.2:p.Trp740Arg",
        "hgvsWellDefined": "NP_060546.2:p.Trp740Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697949",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305242.10:c.2218T>C"
          },
          "RefSeq": {
            "hgvs": "NM_018076.5:c.2218T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000306410.5:p.Trp740Arg"
          },
          "RefSeq": {
            "hgvs": "NP_060546.2:p.Trp740Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}