{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397725951",
  "communityStandardTitle": [
    "NM_000018.4(ACADVL):c.1816T>C (p.Trp606Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2923575[alleleid]",
        "alleleId": 2923575,
        "preferredName": "NM_000018.4(ACADVL):c.1816T>C (p.Trp606Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2769300",
        "RCV": [
          "RCV003499383"
        ],
        "variationId": 2769300
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7128192T>C?assembly=hg19",
        "id": "chr17:g.7128192T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.7224873T>C?assembly=hg38",
        "id": "chr17:g.7224873T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2508371162",
        "rs": 2508371162
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 7224873,
          "referenceAllele": "T",
          "start": 7224872
        }
      ],
      "hgvs": [
        "NC_000017.11:g.7224873T>C",
        "CM000679.2:g.7224873T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 7128192,
          "referenceAllele": "T",
          "start": 7128191
        }
      ],
      "hgvs": [
        "NC_000017.10:g.7128192T>C",
        "CM000679.1:g.7128192T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 7068916,
          "referenceAllele": "T",
          "start": 7068915
        }
      ],
      "hgvs": [
        "NC_000017.9:g.7068916T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10040,
          "referenceAllele": "T",
          "start": 10039
        }
      ],
      "hgvs": [
        "NG_007975.1:g.10040T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "referenceAllele": "A",
          "start": 177
        }
      ],
      "hgvs": [
        "NG_008391.2:g.178A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 14672,
          "referenceAllele": "A",
          "start": 14671
        }
      ],
      "hgvs": [
        "NG_033038.1:g.14672A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005371"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1863,
          "referenceAllele": "T",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.10:c.1816T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Trp606Arg",
        "hgvsWellDefined": "ENSP00000349297.5:p.Trp606Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.1816T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.1816T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Trp606Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Trp606Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2032,
          "referenceAllele": "T",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000322910.9:c.*1771T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325395.5:n.*1771T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258139"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1872,
          "referenceAllele": "T",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000350303.9:c.1750T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344152.5:p.Trp584Arg",
        "hgvsWellDefined": "ENSP00000344152.5:p.Trp584Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262675"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1995,
          "referenceAllele": "T",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000356839.9:c.1816T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349297.5:p.Trp606Arg",
        "hgvsWellDefined": "ENSP00000349297.5:p.Trp606Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263893"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 695,
          "referenceAllele": "T",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000542255.6:c.695T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "T",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000543245.6:c.1885T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438689.2:p.Trp629Arg",
        "hgvsWellDefined": "ENSP00000438689.2:p.Trp629Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 241,
          "referenceAllele": "T",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578033.1:n.241T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385152"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 397,
          "referenceAllele": "T",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578319.5:n.397T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1369,
          "referenceAllele": "T",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578711.1:n.1369T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385498"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 388,
          "referenceAllele": "T",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000578809.5:n.388T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 932,
          "referenceAllele": "T",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579425.5:n.932T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385843"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 551,
          "referenceAllele": "T",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000579546.1:c.551T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 182,
          "referenceAllele": "T",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583848.5:c.182T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466487.1:n.182T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387948"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 587,
          "referenceAllele": "T",
          "start": 586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583850.5:n.587T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 747,
          "referenceAllele": "T",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "ENST00000583858.5:c.747T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS387950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825004278",
      "coordinates": [
        {
          "allele": "C",
          "end": 1970,
          "referenceAllele": "T",
          "start": 1969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.3:c.1816T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Trp606Arg",
        "hgvsWellDefined": "NP_000009.1:p.Trp606Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006083"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374976",
      "coordinates": [
        {
          "allele": "C",
          "end": 1904,
          "referenceAllele": "T",
          "start": 1903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.2:c.1750T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Trp584Arg",
        "hgvsWellDefined": "NP_001029031.1:p.Trp584Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009170"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741850279",
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "T",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.1:c.1885T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Trp629Arg",
        "hgvsWellDefined": "NP_001257376.1:p.Trp629Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020295"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826516978",
      "coordinates": [
        {
          "allele": "C",
          "end": 2045,
          "referenceAllele": "T",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.1:c.1588T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Trp530Arg",
        "hgvsWellDefined": "NP_001257377.1:p.Trp530Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020296"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1944,
          "referenceAllele": "T",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.2:c.1837T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Trp613Arg",
        "hgvsWellDefined": "XP_006721579.2:p.Trp613Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074100"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1842,
          "referenceAllele": "T",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.1:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Trp579Arg",
        "hgvsWellDefined": "XP_011522131.1:p.Trp579Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090962"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1821,
          "referenceAllele": "T",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.1:c.1714T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Trp572Arg",
        "hgvsWellDefined": "XP_011522132.1:p.Trp572Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090963"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1919,
          "referenceAllele": "T",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.1:n.1919T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129466"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1825,
          "referenceAllele": "T",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.1:n.1825T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129467"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1846,
          "referenceAllele": "T",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.1:n.1846T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1896,
          "referenceAllele": "T",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_006721516.3:c.1837T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721579.2:p.Trp613Arg",
        "hgvsWellDefined": "XP_006721579.2:p.Trp613Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540308"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1794,
          "referenceAllele": "T",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523829.2:c.1735T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522131.1:p.Trp579Arg",
        "hgvsWellDefined": "XP_011522131.1:p.Trp579Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1773,
          "referenceAllele": "T",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_011523830.2:c.1714T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522132.1:p.Trp572Arg",
        "hgvsWellDefined": "XP_011522132.1:p.Trp572Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1863,
          "referenceAllele": "T",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XM_024450741.1:c.1804T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306509.1:p.Trp602Arg",
        "hgvsWellDefined": "XP_024306509.1:p.Trp602Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584272"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1871,
          "referenceAllele": "T",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934021.2:n.1871T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1777,
          "referenceAllele": "T",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934022.2:n.1777T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1798,
          "referenceAllele": "T",
          "start": 1797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "XR_934023.2:n.1798T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825004278",
      "coordinates": [
        {
          "allele": "C",
          "end": 1863,
          "referenceAllele": "T",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_000018.4:c.1816T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000009.1:p.Trp606Arg",
        "hgvsWellDefined": "NP_000009.1:p.Trp606Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662284",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356839.10:c.1816T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000018.4:c.1816T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349297.5:p.Trp606Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000009.1:p.Trp606Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825374976",
      "coordinates": [
        {
          "allele": "C",
          "end": 1797,
          "referenceAllele": "T",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.1750T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Trp584Arg",
        "hgvsWellDefined": "NP_001029031.1:p.Trp584Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741850279",
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "T",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.1885T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Trp629Arg",
        "hgvsWellDefined": "NP_001257376.1:p.Trp629Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826516978",
      "coordinates": [
        {
          "allele": "C",
          "end": 1938,
          "referenceAllele": "T",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.1588T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Trp530Arg",
        "hgvsWellDefined": "NP_001257377.1:p.Trp530Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}