{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413920443",
  "communityStandardTitle": [
    "NM_000061.3(BTK):c.1697C>G (p.Pro566Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=649596[alleleid]",
        "alleleId": 649596,
        "preferredName": "NM_000061.3(BTK):c.1697C>G (p.Pro566Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/646878",
        "RCV": [
          "RCV000801257"
        ],
        "variationId": 646878
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100608911G>C?assembly=hg19",
        "id": "chrX:g.100608911G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101353923G>C?assembly=hg38",
        "id": "chrX:g.101353923G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057521814",
        "rs": 1057521814
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 101353923,
          "referenceAllele": "G",
          "start": 101353922
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101353923G>C",
        "CM000685.2:g.101353923G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 100608911,
          "referenceAllele": "G",
          "start": 100608910
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100608911G>C",
        "CM000685.1:g.100608911G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 100495567,
          "referenceAllele": "G",
          "start": 100495566
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100495567G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 37302,
          "referenceAllele": "C",
          "start": 37301
        }
      ],
      "hgvs": [
        "NG_009616.1:g.37302C>G",
        "LRG_128:g.37302C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 47,
          "referenceAllele": "C",
          "start": 46
        }
      ],
      "hgvs": [
        "NG_011734.1:g.47C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001937"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3214,
          "referenceAllele": "C",
          "start": 3213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000478995.2:n.3214C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905263"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3853,
          "referenceAllele": "C",
          "start": 3852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000488970.2:n.3853C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1828,
          "referenceAllele": "C",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695614.1:c.1697C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512053.1:p.Pro566Arg",
        "hgvsWellDefined": "ENSP00000512053.1:p.Pro566Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1913,
          "referenceAllele": "C",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695615.1:c.1697C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512054.1:p.Pro566Arg",
        "hgvsWellDefined": "ENSP00000512054.1:p.Pro566Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1847,
          "referenceAllele": "C",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695616.1:c.*1542C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512055.1:n.*1542C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1849,
          "referenceAllele": "C",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695617.1:c.1694C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512056.1:p.Pro565Arg",
        "hgvsWellDefined": "ENSP00000512056.1:p.Pro565Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "referenceAllele": "C",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695618.1:c.*1446C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512058.1:n.*1446C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1713,
          "referenceAllele": "C",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695619.1:c.*1407C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512059.1:n.*1407C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1948,
          "referenceAllele": "C",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695620.1:c.*1623C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512060.1:n.*1623C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1909,
          "referenceAllele": "C",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695621.1:c.*122C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512061.1:n.*122C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1786,
          "referenceAllele": "C",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695622.1:c.1634C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512062.1:p.Pro545Arg",
        "hgvsWellDefined": "ENSP00000512062.1:p.Pro545Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1843,
          "referenceAllele": "C",
          "start": 1842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695623.1:c.1691C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512063.1:p.Pro564Arg",
        "hgvsWellDefined": "ENSP00000512063.1:p.Pro564Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1002,
          "referenceAllele": "C",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695624.1:n.1002C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1849,
          "referenceAllele": "C",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695625.1:c.1697C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512064.1:p.Pro566Arg",
        "hgvsWellDefined": "ENSP00000512064.1:p.Pro566Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 452,
          "referenceAllele": "C",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695626.1:c.452C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512065.1:n.452C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "referenceAllele": "C",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695627.1:c.645C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512066.1:n.645C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695628.1:c.256C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512067.1:n.256C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 190,
          "endIntronDirection": "-",
          "endIntronOffset": 571,
          "referenceAllele": "C",
          "start": 190,
          "startIntronDirection": "-",
          "startIntronOffset": 572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695629.1:c.191-572C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512068.1:n.191-572C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695630.1:c.424C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 114,
          "endIntronDirection": "-",
          "endIntronOffset": 674,
          "referenceAllele": "C",
          "start": 114,
          "startIntronDirection": "-",
          "startIntronOffset": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695631.1:c.115-675C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 497,
          "referenceAllele": "C",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695632.1:n.497C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000703407.1:c.1169C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512057.1:p.Pro390Arg",
        "hgvsWellDefined": "ENSP00000512057.1:p.Pro390Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "C",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.8:c.1697C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.8:p.Pro566Arg",
        "hgvsWellDefined": "ENSP00000308176.8:p.Pro566Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.1697C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.1697C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Pro566Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Pro566Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1861,
          "referenceAllele": "C",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.7:c.1697C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.7:p.Pro566Arg",
        "hgvsWellDefined": "ENSP00000308176.7:p.Pro566Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000372880.5:c.1169C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361971.1:p.Pro390Arg",
        "hgvsWellDefined": "ENSP00000361971.1:p.Pro390Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 62,
          "referenceAllele": "C",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000470069.1:n.62C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312597"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 299,
          "referenceAllele": "C",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000488970.1:n.299C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1697,
          "referenceAllele": "C",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000618050.4:c.1697C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479125.1:p.Pro566Arg",
        "hgvsWellDefined": "ENSP00000479125.1:p.Pro566Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403762"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2046,
          "referenceAllele": "C",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000621635.4:c.1799C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483570.1:p.Pro600Arg",
        "hgvsWellDefined": "ENSP00000483570.1:p.Pro600Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825029027",
      "coordinates": [
        {
          "allele": "G",
          "end": 1890,
          "referenceAllele": "C",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.2:c.1697C>G",
        "LRG_128t1:c.1697C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Pro566Arg",
        "hgvsWellDefined": "NP_000052.1:p.Pro566Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016786",
      "coordinates": [
        {
          "allele": "G",
          "end": 2046,
          "referenceAllele": "C",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.1:c.1799C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Pro600Arg",
        "hgvsWellDefined": "NP_001274273.1:p.Pro600Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742822",
      "coordinates": [
        {
          "allele": "G",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.1:c.1169C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Pro390Arg",
        "hgvsWellDefined": "NP_001274274.1:p.Pro390Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825029027",
      "coordinates": [
        {
          "allele": "G",
          "end": 1857,
          "referenceAllele": "C",
          "start": 1856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.3:c.1697C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Pro566Arg",
        "hgvsWellDefined": "NP_000052.1:p.Pro566Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.1697C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.1697C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Pro566Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Pro566Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016786",
      "coordinates": [
        {
          "allele": "G",
          "end": 2046,
          "referenceAllele": "C",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.2:c.1799C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Pro600Arg",
        "hgvsWellDefined": "NP_001274273.1:p.Pro600Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742822",
      "coordinates": [
        {
          "allele": "G",
          "end": 1494,
          "referenceAllele": "C",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.2:c.1169C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Pro390Arg",
        "hgvsWellDefined": "NP_001274274.1:p.Pro390Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716365"
    }
  ],
  "type": "nucleotide"
}