{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402344812",
  "communityStandardTitle": [
    "NM_020964.3(EPG5):c.5407C>T (p.Pro1803Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.43462350G>A?assembly=hg19",
        "id": "chr18:g.43462350G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.45882385G>A?assembly=hg38",
        "id": "chr18:g.45882385G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1203929656",
        "rs": 1203929656
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-45882385-G-A?dataset=gnomad_r4",
        "id": "18-45882385-G-A",
        "variant": "18:45882385 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 45882385,
          "referenceAllele": "G",
          "start": 45882384
        }
      ],
      "hgvs": [
        "NC_000018.10:g.45882385G>A",
        "CM000680.2:g.45882385G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 43462350,
          "referenceAllele": "G",
          "start": 43462349
        }
      ],
      "hgvs": [
        "NC_000018.9:g.43462350G>A",
        "CM000680.1:g.43462350G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 41716348,
          "referenceAllele": "G",
          "start": 41716347
        }
      ],
      "hgvs": [
        "NC_000018.8:g.41716348G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 89955,
          "referenceAllele": "C",
          "start": 89954
        }
      ],
      "hgvs": [
        "NG_042838.1:g.89955C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006040"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3668,
          "referenceAllele": "C",
          "start": 3667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000586655.2:n.3668C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5533,
          "referenceAllele": "C",
          "start": 5532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587884.2:c.5533C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466990.2:n.5533C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1272,
          "referenceAllele": "C",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587973.2:n.1272C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906075"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5351,
          "referenceAllele": "C",
          "start": 5350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000590884.6:c.5351C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466403.2:n.5351C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5407,
          "referenceAllele": "C",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000592272.6:c.5407C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467464.2:p.Pro1803Ser",
        "hgvsWellDefined": "ENSP00000467464.2:p.Pro1803Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2039,
          "referenceAllele": "C",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696481.1:n.2039C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5147,
          "referenceAllele": "C",
          "start": 5146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696482.1:c.5147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512656.1:n.5147C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5495,
          "referenceAllele": "C",
          "start": 5494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696483.1:c.5407C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512657.1:p.Pro1803Ser",
        "hgvsWellDefined": "ENSP00000512657.1:p.Pro1803Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5495,
          "referenceAllele": "C",
          "start": 5494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696484.1:c.5407C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512658.1:p.Pro1803Ser",
        "hgvsWellDefined": "ENSP00000512658.1:p.Pro1803Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907936"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5439,
          "referenceAllele": "C",
          "start": 5438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696485.1:c.*2C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512659.1:n.*2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907937"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5407,
          "referenceAllele": "C",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696489.1:c.5407C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512660.1:p.Pro1803Ser",
        "hgvsWellDefined": "ENSP00000512660.1:p.Pro1803Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5495,
          "referenceAllele": "C",
          "start": 5494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696490.1:c.5407C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512661.1:p.Pro1803Ser",
        "hgvsWellDefined": "ENSP00000512661.1:p.Pro1803Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5497,
          "referenceAllele": "C",
          "start": 5496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000282041.11:c.5407C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282041.4:p.Pro1803Ser",
        "hgvsWellDefined": "ENSP00000282041.4:p.Pro1803Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743640",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282041.11:c.5407C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020964.3:c.5407C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282041.4:p.Pro1803Ser"
          },
          "RefSeq": {
            "hgvs": "NP_066015.2:p.Pro1803Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5442,
          "referenceAllele": "C",
          "start": 5441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000282041.9:c.5407C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282041.4:p.Pro1803Ser",
        "hgvsWellDefined": "ENSP00000282041.4:p.Pro1803Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2186,
          "referenceAllele": "C",
          "start": 2185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000585906.5:n.2186C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2166,
          "referenceAllele": "C",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587884.1:c.*1147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466990.1:n.*1147C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1984,
          "referenceAllele": "C",
          "start": 1983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000590884.5:c.*2C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466403.1:n.*2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2040,
          "referenceAllele": "C",
          "start": 2039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000592272.5:c.2032C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467464.1:p.Pro678Ser",
        "hgvsWellDefined": "ENSP00000467464.1:p.Pro678Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085613566",
      "coordinates": [
        {
          "allele": "T",
          "end": 5507,
          "referenceAllele": "C",
          "start": 5506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "NM_020964.2:c.5407C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066015.2:p.Pro1803Ser",
        "hgvsWellDefined": "NP_066015.2:p.Pro1803Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5534,
          "referenceAllele": "C",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526120.1:c.5434C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524422.1:p.Pro1812Ser",
        "hgvsWellDefined": "XP_011524422.1:p.Pro1812Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5534,
          "referenceAllele": "C",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526121.1:c.5434C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524423.1:p.Pro1812Ser",
        "hgvsWellDefined": "XP_011524423.1:p.Pro1812Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5507,
          "referenceAllele": "C",
          "start": 5506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526122.1:c.5407C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524424.1:p.Pro1803Ser",
        "hgvsWellDefined": "XP_011524424.1:p.Pro1803Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5534,
          "referenceAllele": "C",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526123.1:c.5434C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524425.1:p.Pro1812Ser",
        "hgvsWellDefined": "XP_011524425.1:p.Pro1812Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5534,
          "referenceAllele": "C",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526124.1:c.5434C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524426.1:p.Pro1812Ser",
        "hgvsWellDefined": "XP_011524426.1:p.Pro1812Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5393,
          "referenceAllele": "C",
          "start": 5392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526125.1:c.5293C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524427.1:p.Pro1765Ser",
        "hgvsWellDefined": "XP_011524427.1:p.Pro1765Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5557,
          "referenceAllele": "C",
          "start": 5556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526126.1:c.4369C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524428.1:p.Pro1457Ser",
        "hgvsWellDefined": "XP_011524428.1:p.Pro1457Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5534,
          "referenceAllele": "C",
          "start": 5533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526127.1:c.5434C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524429.1:p.Pro1812Ser",
        "hgvsWellDefined": "XP_011524429.1:p.Pro1812Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5478,
          "referenceAllele": "C",
          "start": 5477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526128.1:c.*2C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524430.1:n.*2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5507,
          "referenceAllele": "C",
          "start": 5506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_935244.1:n.5507C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085613566",
      "coordinates": [
        {
          "allele": "T",
          "end": 5497,
          "referenceAllele": "C",
          "start": 5496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "NM_020964.3:c.5407C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066015.2:p.Pro1803Ser",
        "hgvsWellDefined": "NP_066015.2:p.Pro1803Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526024",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282041.11:c.5407C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020964.3:c.5407C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282041.4:p.Pro1803Ser"
          },
          "RefSeq": {
            "hgvs": "NP_066015.2:p.Pro1803Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5489,
          "referenceAllele": "C",
          "start": 5488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025889.1:c.5407C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881378.1:p.Pro1803Ser",
        "hgvsWellDefined": "XP_016881378.1:p.Pro1803Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5489,
          "referenceAllele": "C",
          "start": 5488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025890.2:c.5407C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881379.1:p.Pro1803Ser",
        "hgvsWellDefined": "XP_016881379.1:p.Pro1803Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5366,
          "referenceAllele": "C",
          "start": 5365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025891.1:c.5266C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881380.1:p.Pro1756Ser",
        "hgvsWellDefined": "XP_016881380.1:p.Pro1756Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5532,
          "referenceAllele": "C",
          "start": 5531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025892.1:c.4342C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881381.1:p.Pro1448Ser",
        "hgvsWellDefined": "XP_016881381.1:p.Pro1448Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3379,
          "referenceAllele": "C",
          "start": 3378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025893.1:c.2032C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881382.1:p.Pro678Ser",
        "hgvsWellDefined": "XP_016881382.1:p.Pro678Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5489,
          "referenceAllele": "C",
          "start": 5488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_001753256.1:n.5489C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5433,
          "referenceAllele": "C",
          "start": 5432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_001753257.1:n.5433C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599809"
    }
  ],
  "type": "nucleotide"
}