{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413920454",
  "communityStandardTitle": [
    "NM_000061.3(BTK):c.1696C>T (p.Pro566Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=649597[alleleid]",
        "alleleId": 649597,
        "preferredName": "NM_000061.3(BTK):c.1696C>T (p.Pro566Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/665916",
        "RCV": [
          "RCV000824301"
        ],
        "variationId": 665916
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.100608912G>A?assembly=hg19",
        "id": "chrX:g.100608912G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.101353924G>A?assembly=hg38",
        "id": "chrX:g.101353924G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1603002421",
        "rs": 1603002421
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 101353924,
          "referenceAllele": "G",
          "start": 101353923
        }
      ],
      "hgvs": [
        "NC_000023.11:g.101353924G>A",
        "CM000685.2:g.101353924G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 100608912,
          "referenceAllele": "G",
          "start": 100608911
        }
      ],
      "hgvs": [
        "NC_000023.10:g.100608912G>A",
        "CM000685.1:g.100608912G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 100495568,
          "referenceAllele": "G",
          "start": 100495567
        }
      ],
      "hgvs": [
        "NC_000023.9:g.100495568G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 37301,
          "referenceAllele": "C",
          "start": 37300
        }
      ],
      "hgvs": [
        "NG_009616.1:g.37301C>T",
        "LRG_128:g.37301C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46,
          "referenceAllele": "C",
          "start": 45
        }
      ],
      "hgvs": [
        "NG_011734.1:g.46C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001937"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3213,
          "referenceAllele": "C",
          "start": 3212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000478995.2:n.3213C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3852,
          "referenceAllele": "C",
          "start": 3851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000488970.2:n.3852C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1827,
          "referenceAllele": "C",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695614.1:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512053.1:p.Pro566Ser",
        "hgvsWellDefined": "ENSP00000512053.1:p.Pro566Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1912,
          "referenceAllele": "C",
          "start": 1911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695615.1:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512054.1:p.Pro566Ser",
        "hgvsWellDefined": "ENSP00000512054.1:p.Pro566Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1846,
          "referenceAllele": "C",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695616.1:c.*1541C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512055.1:n.*1541C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1848,
          "referenceAllele": "C",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695617.1:c.1693C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512056.1:p.Pro565Ser",
        "hgvsWellDefined": "ENSP00000512056.1:p.Pro565Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907122"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1954,
          "referenceAllele": "C",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695618.1:c.*1445C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512058.1:n.*1445C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1712,
          "referenceAllele": "C",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695619.1:c.*1406C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512059.1:n.*1406C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1947,
          "referenceAllele": "C",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695620.1:c.*1622C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512060.1:n.*1622C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1908,
          "referenceAllele": "C",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695621.1:c.*121C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512061.1:n.*121C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "referenceAllele": "C",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695622.1:c.1633C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512062.1:p.Pro545Ser",
        "hgvsWellDefined": "ENSP00000512062.1:p.Pro545Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1842,
          "referenceAllele": "C",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695623.1:c.1690C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512063.1:p.Pro564Ser",
        "hgvsWellDefined": "ENSP00000512063.1:p.Pro564Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "referenceAllele": "C",
          "start": 1000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695624.1:n.1001C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1848,
          "referenceAllele": "C",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695625.1:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512064.1:p.Pro566Ser",
        "hgvsWellDefined": "ENSP00000512064.1:p.Pro566Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "C",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695626.1:c.451C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512065.1:n.451C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "referenceAllele": "C",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695627.1:c.644C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512066.1:n.644C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 255,
          "referenceAllele": "C",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695628.1:c.255C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512067.1:n.255C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "endIntronDirection": "-",
          "endIntronOffset": 572,
          "referenceAllele": "C",
          "start": 190,
          "startIntronDirection": "-",
          "startIntronOffset": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695629.1:c.191-573C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512068.1:n.191-573C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695630.1:c.423C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "endIntronDirection": "-",
          "endIntronOffset": 675,
          "referenceAllele": "C",
          "start": 114,
          "startIntronDirection": "-",
          "startIntronOffset": 676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695631.1:c.115-676C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 496,
          "referenceAllele": "C",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000695632.1:n.496C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1481,
          "referenceAllele": "C",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000703407.1:c.1168C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512057.1:p.Pro390Ser",
        "hgvsWellDefined": "ENSP00000512057.1:p.Pro390Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1856,
          "referenceAllele": "C",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.8:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.8:p.Pro566Ser",
        "hgvsWellDefined": "ENSP00000308176.8:p.Pro566Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745484",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.1696C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.1696C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Pro566Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Pro566Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1860,
          "referenceAllele": "C",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000308731.7:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308176.7:p.Pro566Ser",
        "hgvsWellDefined": "ENSP00000308176.7:p.Pro566Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1526,
          "referenceAllele": "C",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000372880.5:c.1168C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361971.1:p.Pro390Ser",
        "hgvsWellDefined": "ENSP00000361971.1:p.Pro390Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 61,
          "referenceAllele": "C",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000470069.1:n.61C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 298,
          "referenceAllele": "C",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000488970.1:n.298C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000618050.4:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479125.1:p.Pro566Ser",
        "hgvsWellDefined": "ENSP00000479125.1:p.Pro566Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "ENST00000621635.4:c.1798C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000483570.1:p.Pro600Ser",
        "hgvsWellDefined": "ENSP00000483570.1:p.Pro600Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825029026",
      "coordinates": [
        {
          "allele": "T",
          "end": 1889,
          "referenceAllele": "C",
          "start": 1888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.2:c.1696C>T",
        "LRG_128t1:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Pro566Ser",
        "hgvsWellDefined": "NP_000052.1:p.Pro566Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006125"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016784",
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.1:c.1798C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Pro600Ser",
        "hgvsWellDefined": "NP_001274273.1:p.Pro600Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023307"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742820",
      "coordinates": [
        {
          "allele": "T",
          "end": 1526,
          "referenceAllele": "C",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.1:c.1168C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Pro390Ser",
        "hgvsWellDefined": "NP_001274274.1:p.Pro390Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023308"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825029026",
      "coordinates": [
        {
          "allele": "T",
          "end": 1856,
          "referenceAllele": "C",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_000061.3:c.1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000052.1:p.Pro566Ser",
        "hgvsWellDefined": "NP_000052.1:p.Pro566Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000308731.8:c.1696C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000061.3:c.1696C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308176.8:p.Pro566Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000052.1:p.Pro566Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916016784",
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287344.2:c.1798C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274273.1:p.Pro600Ser",
        "hgvsWellDefined": "NP_001274273.1:p.Pro600Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826742820",
      "coordinates": [
        {
          "allele": "T",
          "end": 1493,
          "referenceAllele": "C",
          "start": 1492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NM_001287345.2:c.1168C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274274.1:p.Pro390Ser",
        "hgvsWellDefined": "NP_001274274.1:p.Pro390Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716365"
    }
  ],
  "type": "nucleotide"
}