{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402344767",
  "communityStandardTitle": [
    "NM_020964.3(EPG5):c.5427G>C (p.Met1809Ile)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.43462330C>G?assembly=hg19",
        "id": "chr18:g.43462330C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.45882365C>G?assembly=hg38",
        "id": "chr18:g.45882365C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 45882365,
          "referenceAllele": "C",
          "start": 45882364
        }
      ],
      "hgvs": [
        "NC_000018.10:g.45882365C>G",
        "CM000680.2:g.45882365C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 43462330,
          "referenceAllele": "C",
          "start": 43462329
        }
      ],
      "hgvs": [
        "NC_000018.9:g.43462330C>G",
        "CM000680.1:g.43462330C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 41716328,
          "referenceAllele": "C",
          "start": 41716327
        }
      ],
      "hgvs": [
        "NC_000018.8:g.41716328C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 89975,
          "referenceAllele": "G",
          "start": 89974
        }
      ],
      "hgvs": [
        "NG_042838.1:g.89975G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006040"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3688,
          "referenceAllele": "G",
          "start": 3687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000586655.2:n.3688G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5553,
          "referenceAllele": "G",
          "start": 5552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587884.2:c.5553G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466990.2:n.5553G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1292,
          "referenceAllele": "G",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587973.2:n.1292G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906075"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5371,
          "referenceAllele": "G",
          "start": 5370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000590884.6:c.5371G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466403.2:n.5371G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5427,
          "referenceAllele": "G",
          "start": 5426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000592272.6:c.5427G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467464.2:p.Met1809Ile",
        "hgvsWellDefined": "ENSP00000467464.2:p.Met1809Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2059,
          "referenceAllele": "G",
          "start": 2058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696481.1:n.2059G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5167,
          "referenceAllele": "G",
          "start": 5166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696482.1:c.5167G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512656.1:n.5167G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907934"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5515,
          "referenceAllele": "G",
          "start": 5514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696483.1:c.5427G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512657.1:p.Met1809Ile",
        "hgvsWellDefined": "ENSP00000512657.1:p.Met1809Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907935"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5515,
          "referenceAllele": "G",
          "start": 5514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696484.1:c.5427G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512658.1:p.Met1809Ile",
        "hgvsWellDefined": "ENSP00000512658.1:p.Met1809Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5459,
          "referenceAllele": "G",
          "start": 5458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696485.1:c.*22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512659.1:n.*22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5427,
          "referenceAllele": "G",
          "start": 5426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696489.1:c.5427G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512660.1:p.Met1809Ile",
        "hgvsWellDefined": "ENSP00000512660.1:p.Met1809Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907939"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5515,
          "referenceAllele": "G",
          "start": 5514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696490.1:c.5427G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512661.1:p.Met1809Ile",
        "hgvsWellDefined": "ENSP00000512661.1:p.Met1809Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5517,
          "referenceAllele": "G",
          "start": 5516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000282041.11:c.5427G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282041.4:p.Met1809Ile",
        "hgvsWellDefined": "ENSP00000282041.4:p.Met1809Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743640",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282041.11:c.5427G>C"
          },
          "RefSeq": {
            "hgvs": "NM_020964.3:c.5427G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282041.4:p.Met1809Ile"
          },
          "RefSeq": {
            "hgvs": "NP_066015.2:p.Met1809Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5462,
          "referenceAllele": "G",
          "start": 5461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000282041.9:c.5427G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282041.4:p.Met1809Ile",
        "hgvsWellDefined": "ENSP00000282041.4:p.Met1809Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2206,
          "referenceAllele": "G",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000585906.5:n.2206G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2186,
          "referenceAllele": "G",
          "start": 2185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587884.1:c.*1167G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466990.1:n.*1167G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390394"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2004,
          "referenceAllele": "G",
          "start": 2003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000590884.5:c.*22G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466403.1:n.*22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2060,
          "referenceAllele": "G",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000592272.5:c.2052G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467464.1:p.Met684Ile",
        "hgvsWellDefined": "ENSP00000467464.1:p.Met684Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573281706",
      "coordinates": [
        {
          "allele": "C",
          "end": 5527,
          "referenceAllele": "G",
          "start": 5526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "NM_020964.2:c.5427G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066015.2:p.Met1809Ile",
        "hgvsWellDefined": "NP_066015.2:p.Met1809Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5554,
          "referenceAllele": "G",
          "start": 5553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526120.1:c.5454G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524422.1:p.Met1818Ile",
        "hgvsWellDefined": "XP_011524422.1:p.Met1818Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5554,
          "referenceAllele": "G",
          "start": 5553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526121.1:c.5454G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524423.1:p.Met1818Ile",
        "hgvsWellDefined": "XP_011524423.1:p.Met1818Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5527,
          "referenceAllele": "G",
          "start": 5526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526122.1:c.5427G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524424.1:p.Met1809Ile",
        "hgvsWellDefined": "XP_011524424.1:p.Met1809Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5554,
          "referenceAllele": "G",
          "start": 5553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526123.1:c.5454G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524425.1:p.Met1818Ile",
        "hgvsWellDefined": "XP_011524425.1:p.Met1818Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5554,
          "referenceAllele": "G",
          "start": 5553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526124.1:c.5454G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524426.1:p.Met1818Ile",
        "hgvsWellDefined": "XP_011524426.1:p.Met1818Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5413,
          "referenceAllele": "G",
          "start": 5412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526125.1:c.5313G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524427.1:p.Met1771Ile",
        "hgvsWellDefined": "XP_011524427.1:p.Met1771Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093232"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5577,
          "referenceAllele": "G",
          "start": 5576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526126.1:c.4389G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524428.1:p.Met1463Ile",
        "hgvsWellDefined": "XP_011524428.1:p.Met1463Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5554,
          "referenceAllele": "G",
          "start": 5553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526127.1:c.5454G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524429.1:p.Met1818Ile",
        "hgvsWellDefined": "XP_011524429.1:p.Met1818Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5498,
          "referenceAllele": "G",
          "start": 5497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526128.1:c.*22G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524430.1:n.*22G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093235"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5527,
          "referenceAllele": "G",
          "start": 5526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_935244.1:n.5527G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573281706",
      "coordinates": [
        {
          "allele": "C",
          "end": 5517,
          "referenceAllele": "G",
          "start": 5516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "NM_020964.3:c.5427G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066015.2:p.Met1809Ile",
        "hgvsWellDefined": "NP_066015.2:p.Met1809Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526024",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282041.11:c.5427G>C"
          },
          "RefSeq": {
            "hgvs": "NM_020964.3:c.5427G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282041.4:p.Met1809Ile"
          },
          "RefSeq": {
            "hgvs": "NP_066015.2:p.Met1809Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5509,
          "referenceAllele": "G",
          "start": 5508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025889.1:c.5427G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881378.1:p.Met1809Ile",
        "hgvsWellDefined": "XP_016881378.1:p.Met1809Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5509,
          "referenceAllele": "G",
          "start": 5508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025890.2:c.5427G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881379.1:p.Met1809Ile",
        "hgvsWellDefined": "XP_016881379.1:p.Met1809Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5386,
          "referenceAllele": "G",
          "start": 5385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025891.1:c.5286G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881380.1:p.Met1762Ile",
        "hgvsWellDefined": "XP_016881380.1:p.Met1762Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5552,
          "referenceAllele": "G",
          "start": 5551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025892.1:c.4362G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881381.1:p.Met1454Ile",
        "hgvsWellDefined": "XP_016881381.1:p.Met1454Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3399,
          "referenceAllele": "G",
          "start": 3398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025893.1:c.2052G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881382.1:p.Met684Ile",
        "hgvsWellDefined": "XP_016881382.1:p.Met684Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5509,
          "referenceAllele": "G",
          "start": 5508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_001753256.1:n.5509G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599808"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5453,
          "referenceAllele": "G",
          "start": 5452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_001753257.1:n.5453G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599809"
    }
  ],
  "type": "nucleotide"
}