{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402344823",
  "communityStandardTitle": [
    "NM_020964.3(EPG5):c.5402T>C (p.Leu1801Pro)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.43462355A>G?assembly=hg19",
        "id": "chr18:g.43462355A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.45882390A>G?assembly=hg38",
        "id": "chr18:g.45882390A>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 45882390,
          "referenceAllele": "A",
          "start": 45882389
        }
      ],
      "hgvs": [
        "NC_000018.10:g.45882390A>G",
        "CM000680.2:g.45882390A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 43462355,
          "referenceAllele": "A",
          "start": 43462354
        }
      ],
      "hgvs": [
        "NC_000018.9:g.43462355A>G",
        "CM000680.1:g.43462355A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 41716353,
          "referenceAllele": "A",
          "start": 41716352
        }
      ],
      "hgvs": [
        "NC_000018.8:g.41716353A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 89950,
          "referenceAllele": "T",
          "start": 89949
        }
      ],
      "hgvs": [
        "NG_042838.1:g.89950T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006040"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3663,
          "referenceAllele": "T",
          "start": 3662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000586655.2:n.3663T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5528,
          "referenceAllele": "T",
          "start": 5527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587884.2:c.5528T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466990.2:n.5528T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1267,
          "referenceAllele": "T",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587973.2:n.1267T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5346,
          "referenceAllele": "T",
          "start": 5345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000590884.6:c.5346T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466403.2:p.Pro1782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5402,
          "referenceAllele": "T",
          "start": 5401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000592272.6:c.5402T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467464.2:p.Leu1801Pro",
        "hgvsWellDefined": "ENSP00000467464.2:p.Leu1801Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2034,
          "referenceAllele": "T",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696481.1:n.2034T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5142,
          "referenceAllele": "T",
          "start": 5141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696482.1:c.5142T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512656.1:n.5142T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5490,
          "referenceAllele": "T",
          "start": 5489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696483.1:c.5402T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512657.1:p.Leu1801Pro",
        "hgvsWellDefined": "ENSP00000512657.1:p.Leu1801Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5490,
          "referenceAllele": "T",
          "start": 5489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696484.1:c.5402T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512658.1:p.Leu1801Pro",
        "hgvsWellDefined": "ENSP00000512658.1:p.Leu1801Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5434,
          "referenceAllele": "T",
          "start": 5433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696485.1:c.5346T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512659.1:p.Pro1782="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5402,
          "referenceAllele": "T",
          "start": 5401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696489.1:c.5402T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512660.1:p.Leu1801Pro",
        "hgvsWellDefined": "ENSP00000512660.1:p.Leu1801Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5490,
          "referenceAllele": "T",
          "start": 5489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696490.1:c.5402T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512661.1:p.Leu1801Pro",
        "hgvsWellDefined": "ENSP00000512661.1:p.Leu1801Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5492,
          "referenceAllele": "T",
          "start": 5491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000282041.11:c.5402T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282041.4:p.Leu1801Pro",
        "hgvsWellDefined": "ENSP00000282041.4:p.Leu1801Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743640",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282041.11:c.5402T>C"
          },
          "RefSeq": {
            "hgvs": "NM_020964.3:c.5402T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282041.4:p.Leu1801Pro"
          },
          "RefSeq": {
            "hgvs": "NP_066015.2:p.Leu1801Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5437,
          "referenceAllele": "T",
          "start": 5436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000282041.9:c.5402T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282041.4:p.Leu1801Pro",
        "hgvsWellDefined": "ENSP00000282041.4:p.Leu1801Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2181,
          "referenceAllele": "T",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000585906.5:n.2181T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2161,
          "referenceAllele": "T",
          "start": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587884.1:c.*1142T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466990.1:n.*1142T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1979,
          "referenceAllele": "T",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000590884.5:c.1971T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466403.1:p.Pro657="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2035,
          "referenceAllele": "T",
          "start": 2034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000592272.5:c.2027T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467464.1:p.Leu676Pro",
        "hgvsWellDefined": "ENSP00000467464.1:p.Leu676Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5502,
          "referenceAllele": "T",
          "start": 5501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "NM_020964.2:c.5402T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066015.2:p.Leu1801Pro",
        "hgvsWellDefined": "NP_066015.2:p.Leu1801Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5529,
          "referenceAllele": "T",
          "start": 5528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526120.1:c.5429T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524422.1:p.Leu1810Pro",
        "hgvsWellDefined": "XP_011524422.1:p.Leu1810Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5529,
          "referenceAllele": "T",
          "start": 5528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526121.1:c.5429T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524423.1:p.Leu1810Pro",
        "hgvsWellDefined": "XP_011524423.1:p.Leu1810Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5502,
          "referenceAllele": "T",
          "start": 5501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526122.1:c.5402T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524424.1:p.Leu1801Pro",
        "hgvsWellDefined": "XP_011524424.1:p.Leu1801Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5529,
          "referenceAllele": "T",
          "start": 5528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526123.1:c.5429T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524425.1:p.Leu1810Pro",
        "hgvsWellDefined": "XP_011524425.1:p.Leu1810Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5529,
          "referenceAllele": "T",
          "start": 5528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526124.1:c.5429T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524426.1:p.Leu1810Pro",
        "hgvsWellDefined": "XP_011524426.1:p.Leu1810Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5388,
          "referenceAllele": "T",
          "start": 5387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526125.1:c.5288T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524427.1:p.Leu1763Pro",
        "hgvsWellDefined": "XP_011524427.1:p.Leu1763Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093232"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5552,
          "referenceAllele": "T",
          "start": 5551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526126.1:c.4364T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524428.1:p.Leu1455Pro",
        "hgvsWellDefined": "XP_011524428.1:p.Leu1455Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5529,
          "referenceAllele": "T",
          "start": 5528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526127.1:c.5429T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524429.1:p.Leu1810Pro",
        "hgvsWellDefined": "XP_011524429.1:p.Leu1810Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5473,
          "referenceAllele": "T",
          "start": 5472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526128.1:c.5373T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524430.1:p.Pro1791="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5502,
          "referenceAllele": "T",
          "start": 5501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_935244.1:n.5502T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5492,
          "referenceAllele": "T",
          "start": 5491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "NM_020964.3:c.5402T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066015.2:p.Leu1801Pro",
        "hgvsWellDefined": "NP_066015.2:p.Leu1801Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526024",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282041.11:c.5402T>C"
          },
          "RefSeq": {
            "hgvs": "NM_020964.3:c.5402T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282041.4:p.Leu1801Pro"
          },
          "RefSeq": {
            "hgvs": "NP_066015.2:p.Leu1801Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5484,
          "referenceAllele": "T",
          "start": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025889.1:c.5402T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881378.1:p.Leu1801Pro",
        "hgvsWellDefined": "XP_016881378.1:p.Leu1801Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5484,
          "referenceAllele": "T",
          "start": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025890.2:c.5402T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881379.1:p.Leu1801Pro",
        "hgvsWellDefined": "XP_016881379.1:p.Leu1801Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5361,
          "referenceAllele": "T",
          "start": 5360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025891.1:c.5261T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881380.1:p.Leu1754Pro",
        "hgvsWellDefined": "XP_016881380.1:p.Leu1754Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5527,
          "referenceAllele": "T",
          "start": 5526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025892.1:c.4337T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881381.1:p.Leu1446Pro",
        "hgvsWellDefined": "XP_016881381.1:p.Leu1446Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3374,
          "referenceAllele": "T",
          "start": 3373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025893.1:c.2027T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881382.1:p.Leu676Pro",
        "hgvsWellDefined": "XP_016881382.1:p.Leu676Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5484,
          "referenceAllele": "T",
          "start": 5483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_001753256.1:n.5484T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5428,
          "referenceAllele": "T",
          "start": 5427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_001753257.1:n.5428T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599809"
    }
  ],
  "type": "nucleotide"
}