{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA290484",
  "communityStandardTitle": [
    "NM_078470.6(COX15):c.988-8C>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=140716[alleleid]",
        "alleleId": 140716,
        "preferredName": "NM_078470.6(COX15):c.988-8C>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/137013",
        "RCV": [
          "RCV000124578",
          "RCV000426006",
          "RCV001106672"
        ],
        "variationId": 137013
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-101476226-G-T",
        "id": "10-101476226-G-T",
        "variant": "10:101476226 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.101476226G>T?assembly=hg19",
        "id": "chr10:g.101476226G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.99716469G>T?assembly=hg38",
        "id": "chr10:g.99716469G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/542092025",
        "rs": 542092025
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-101476226-G-T?dataset=gnomad_r2_1",
        "id": "10-101476226-G-T",
        "variant": "10:101476226 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-99716469-G-T?dataset=gnomad_r3",
        "id": "10-99716469-G-T",
        "variant": "10:99716469 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-99716469-G-T?dataset=gnomad_r4",
        "id": "10-99716469-G-T",
        "variant": "10:99716469 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 99716469,
          "referenceAllele": "G",
          "start": 99716468
        }
      ],
      "hgvs": [
        "NC_000010.11:g.99716469G>T",
        "CM000672.2:g.99716469G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 101476226,
          "referenceAllele": "G",
          "start": 101476225
        }
      ],
      "hgvs": [
        "NC_000010.10:g.101476226G>T",
        "CM000672.1:g.101476226G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "T",
          "end": 101466216,
          "referenceAllele": "G",
          "start": 101466215
        }
      ],
      "hgvs": [
        "NC_000010.9:g.101466216G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21198,
          "referenceAllele": "C",
          "start": 21197
        }
      ],
      "hgvs": [
        "NG_008986.1:g.21198C>A",
        "LRG_406:g.21198C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001357"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1065,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "ENST00000016171.6:c.988-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000016171.6:n.988-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739966",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000016171.6:c.988-8C>A"
          },
          "RefSeq": {
            "hgvs": "NM_078470.6:c.988-8C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000016171.6:n.988-8C>A"
          },
          "RefSeq": {
            "hgvs": "NP_510870.1:n.988-8C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 967,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 967,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "hgvs": [
        "ENST00000649102.1:c.*347-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497114.1:n.*347-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1038,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1038,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "ENST00000016171.5:c.988-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000016171.5:n.988-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1038,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1038,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "ENST00000370483.9:c.988-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359514.5:n.988-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 116,
          "endIntronDirection": "-",
          "endIntronOffset": 6448,
          "referenceAllele": "G",
          "start": 116,
          "startIntronDirection": "-",
          "startIntronOffset": 6449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024271",
      "geneNCBI_id": 51076,
      "geneSymbol": "CUTC",
      "hgvs": [
        "ENST00000493385.5:n.117-6449G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 178,
          "referenceAllele": "C",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "ENST00000497381.1:n.178C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333631"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1604,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1604,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_004376.5:c.988-8C>A",
        "LRG_406t2:c.988-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004367.2:n.988-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1604,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1604,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_078470.4:c.988-8C>A",
        "LRG_406t1:c.988-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_510870.1:n.988-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040116"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1069,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1069,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "XM_005269539.3:c.988-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269596.1:n.988-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066168"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 914,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "XM_006717633.2:c.833-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717696.1:n.833-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 914,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "XM_006717634.2:c.833-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717697.1:n.833-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 914,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "XM_011539298.1:c.833-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537600.1:n.833-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106248"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1604,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1604,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001320974.1:c.988-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307903.1:n.988-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1449,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1449,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001320975.1:c.833-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307904.1:n.833-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1521,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1521,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001320976.1:c.451-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307905.1:n.451-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513941"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1604,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1604,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_004376.6:c.988-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004367.2:n.988-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1604,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1604,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_078470.5:c.988-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_510870.1:n.988-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 914,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "XM_006717634.3:c.833-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717697.1:n.833-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 914,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "XM_011539298.2:c.833-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537600.1:n.833-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1065,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001320974.2:c.988-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307903.1:n.988-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 910,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 910,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001320975.2:c.833-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307904.1:n.833-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001320976.2:c.451-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001307905.1:n.451-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1065,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001372024.1:c.988-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358953.1:n.988-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139743198",
      "coordinates": [
        {
          "allele": "A",
          "end": 1076,
          "referenceAllele": "C",
          "start": 1075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001372025.1:c.998C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358954.1:p.Ser333Tyr",
        "hgvsWellDefined": "NP_001358954.1:p.Ser333Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1038,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1038,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001372026.1:c.961-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358955.1:n.961-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1065,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001372027.1:c.988-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358956.1:n.988-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693092"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 910,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 910,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_001372028.1:c.833-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358957.1:n.833-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1065,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_004376.7:c.988-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004367.2:n.988-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696121"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1065,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 1065,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NM_078470.6:c.988-8C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_510870.1:n.988-8C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699495",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000016171.6:c.988-8C>A"
          },
          "RefSeq": {
            "hgvs": "NM_078470.6:c.988-8C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000016171.6:n.988-8C>A"
          },
          "RefSeq": {
            "hgvs": "NP_510870.1:n.988-8C>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 827,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 827,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002263",
      "geneNCBI_id": 1355,
      "geneSymbol": "COX15",
      "hgvs": [
        "NR_164009.1:n.828-8C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705670"
    }
  ],
  "type": "nucleotide"
}