{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402344578",
  "communityStandardTitle": [
    "NM_020964.3(EPG5):c.5507T>C (p.Leu1836Pro)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.43462250A>G?assembly=hg19",
        "id": "chr18:g.43462250A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.45882285A>G?assembly=hg38",
        "id": "chr18:g.45882285A>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 45882285,
          "referenceAllele": "A",
          "start": 45882284
        }
      ],
      "hgvs": [
        "NC_000018.10:g.45882285A>G",
        "CM000680.2:g.45882285A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 43462250,
          "referenceAllele": "A",
          "start": 43462249
        }
      ],
      "hgvs": [
        "NC_000018.9:g.43462250A>G",
        "CM000680.1:g.43462250A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 41716248,
          "referenceAllele": "A",
          "start": 41716247
        }
      ],
      "hgvs": [
        "NC_000018.8:g.41716248A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 90055,
          "referenceAllele": "T",
          "start": 90054
        }
      ],
      "hgvs": [
        "NG_042838.1:g.90055T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006040"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3768,
          "referenceAllele": "T",
          "start": 3767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000586655.2:n.3768T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5633,
          "referenceAllele": "T",
          "start": 5632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587884.2:c.5633T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466990.2:n.5633T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1372,
          "referenceAllele": "T",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587973.2:n.1372T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5451,
          "referenceAllele": "T",
          "start": 5450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000590884.6:c.5451T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466403.2:n.5451T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5507,
          "referenceAllele": "T",
          "start": 5506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000592272.6:c.5507T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467464.2:p.Leu1836Pro",
        "hgvsWellDefined": "ENSP00000467464.2:p.Leu1836Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2139,
          "referenceAllele": "T",
          "start": 2138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696481.1:n.2139T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5247,
          "referenceAllele": "T",
          "start": 5246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696482.1:c.5247T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512656.1:n.5247T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5595,
          "referenceAllele": "T",
          "start": 5594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696483.1:c.5507T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512657.1:p.Leu1836Pro",
        "hgvsWellDefined": "ENSP00000512657.1:p.Leu1836Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5595,
          "referenceAllele": "T",
          "start": 5594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696484.1:c.5507T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512658.1:p.Leu1836Pro",
        "hgvsWellDefined": "ENSP00000512658.1:p.Leu1836Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5539,
          "referenceAllele": "T",
          "start": 5538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696485.1:c.*102T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512659.1:n.*102T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5507,
          "referenceAllele": "T",
          "start": 5506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696489.1:c.5507T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512660.1:p.Leu1836Pro",
        "hgvsWellDefined": "ENSP00000512660.1:p.Leu1836Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5595,
          "referenceAllele": "T",
          "start": 5594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696490.1:c.5507T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512661.1:p.Leu1836Pro",
        "hgvsWellDefined": "ENSP00000512661.1:p.Leu1836Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5597,
          "referenceAllele": "T",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000282041.11:c.5507T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282041.4:p.Leu1836Pro",
        "hgvsWellDefined": "ENSP00000282041.4:p.Leu1836Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743640",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282041.11:c.5507T>C"
          },
          "RefSeq": {
            "hgvs": "NM_020964.3:c.5507T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282041.4:p.Leu1836Pro"
          },
          "RefSeq": {
            "hgvs": "NP_066015.2:p.Leu1836Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5542,
          "referenceAllele": "T",
          "start": 5541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000282041.9:c.5507T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282041.4:p.Leu1836Pro",
        "hgvsWellDefined": "ENSP00000282041.4:p.Leu1836Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2286,
          "referenceAllele": "T",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000585906.5:n.2286T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2266,
          "referenceAllele": "T",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587884.1:c.*1247T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466990.1:n.*1247T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2084,
          "referenceAllele": "T",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000590884.5:c.*102T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466403.1:n.*102T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2140,
          "referenceAllele": "T",
          "start": 2139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000592272.5:c.2132T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467464.1:p.Leu711Pro",
        "hgvsWellDefined": "ENSP00000467464.1:p.Leu711Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5607,
          "referenceAllele": "T",
          "start": 5606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "NM_020964.2:c.5507T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066015.2:p.Leu1836Pro",
        "hgvsWellDefined": "NP_066015.2:p.Leu1836Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5634,
          "referenceAllele": "T",
          "start": 5633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526120.1:c.5534T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524422.1:p.Leu1845Pro",
        "hgvsWellDefined": "XP_011524422.1:p.Leu1845Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5634,
          "referenceAllele": "T",
          "start": 5633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526121.1:c.5534T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524423.1:p.Leu1845Pro",
        "hgvsWellDefined": "XP_011524423.1:p.Leu1845Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5607,
          "referenceAllele": "T",
          "start": 5606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526122.1:c.5507T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524424.1:p.Leu1836Pro",
        "hgvsWellDefined": "XP_011524424.1:p.Leu1836Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5634,
          "referenceAllele": "T",
          "start": 5633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526123.1:c.5534T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524425.1:p.Leu1845Pro",
        "hgvsWellDefined": "XP_011524425.1:p.Leu1845Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5634,
          "referenceAllele": "T",
          "start": 5633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526124.1:c.5534T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524426.1:p.Leu1845Pro",
        "hgvsWellDefined": "XP_011524426.1:p.Leu1845Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5493,
          "referenceAllele": "T",
          "start": 5492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526125.1:c.5393T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524427.1:p.Leu1798Pro",
        "hgvsWellDefined": "XP_011524427.1:p.Leu1798Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093232"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5657,
          "referenceAllele": "T",
          "start": 5656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526126.1:c.4469T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524428.1:p.Leu1490Pro",
        "hgvsWellDefined": "XP_011524428.1:p.Leu1490Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5634,
          "referenceAllele": "T",
          "start": 5633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526127.1:c.5534T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524429.1:p.Leu1845Pro",
        "hgvsWellDefined": "XP_011524429.1:p.Leu1845Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5578,
          "referenceAllele": "T",
          "start": 5577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526128.1:c.*102T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524430.1:n.*102T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5607,
          "referenceAllele": "T",
          "start": 5606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_935244.1:n.5607T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5597,
          "referenceAllele": "T",
          "start": 5596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "NM_020964.3:c.5507T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066015.2:p.Leu1836Pro",
        "hgvsWellDefined": "NP_066015.2:p.Leu1836Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526024",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282041.11:c.5507T>C"
          },
          "RefSeq": {
            "hgvs": "NM_020964.3:c.5507T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282041.4:p.Leu1836Pro"
          },
          "RefSeq": {
            "hgvs": "NP_066015.2:p.Leu1836Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5589,
          "referenceAllele": "T",
          "start": 5588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025889.1:c.5507T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881378.1:p.Leu1836Pro",
        "hgvsWellDefined": "XP_016881378.1:p.Leu1836Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5589,
          "referenceAllele": "T",
          "start": 5588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025890.2:c.5507T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881379.1:p.Leu1836Pro",
        "hgvsWellDefined": "XP_016881379.1:p.Leu1836Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5466,
          "referenceAllele": "T",
          "start": 5465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025891.1:c.5366T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881380.1:p.Leu1789Pro",
        "hgvsWellDefined": "XP_016881380.1:p.Leu1789Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5632,
          "referenceAllele": "T",
          "start": 5631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025892.1:c.4442T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881381.1:p.Leu1481Pro",
        "hgvsWellDefined": "XP_016881381.1:p.Leu1481Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3479,
          "referenceAllele": "T",
          "start": 3478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025893.1:c.2132T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881382.1:p.Leu711Pro",
        "hgvsWellDefined": "XP_016881382.1:p.Leu711Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5589,
          "referenceAllele": "T",
          "start": 5588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_001753256.1:n.5589T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5533,
          "referenceAllele": "T",
          "start": 5532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_001753257.1:n.5533T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599809"
    }
  ],
  "type": "nucleotide"
}