{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402345013",
  "communityStandardTitle": [
    "NM_020964.3(EPG5):c.5312T>G (p.Leu1771Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.43462445A>C?assembly=hg19",
        "id": "chr18:g.43462445A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.45882480A>C?assembly=hg38",
        "id": "chr18:g.45882480A>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 45882480,
          "referenceAllele": "A",
          "start": 45882479
        }
      ],
      "hgvs": [
        "NC_000018.10:g.45882480A>C",
        "CM000680.2:g.45882480A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 43462445,
          "referenceAllele": "A",
          "start": 43462444
        }
      ],
      "hgvs": [
        "NC_000018.9:g.43462445A>C",
        "CM000680.1:g.43462445A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 41716443,
          "referenceAllele": "A",
          "start": 41716442
        }
      ],
      "hgvs": [
        "NC_000018.8:g.41716443A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 89860,
          "referenceAllele": "T",
          "start": 89859
        }
      ],
      "hgvs": [
        "NG_042838.1:g.89860T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006040"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3621,
          "endIntronDirection": "-",
          "endIntronOffset": 48,
          "referenceAllele": "T",
          "start": 3621,
          "startIntronDirection": "-",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000586655.2:n.3622-49T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5438,
          "referenceAllele": "T",
          "start": 5437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587884.2:c.5438T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466990.2:n.5438T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1177,
          "referenceAllele": "T",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587973.2:n.1177T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5304,
          "endIntronDirection": "-",
          "endIntronOffset": 48,
          "referenceAllele": "T",
          "start": 5304,
          "startIntronDirection": "-",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000590884.6:c.5305-49T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466403.2:n.5305-49T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5312,
          "referenceAllele": "T",
          "start": 5311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000592272.6:c.5312T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467464.2:p.Leu1771Arg",
        "hgvsWellDefined": "ENSP00000467464.2:p.Leu1771Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906112"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1944,
          "referenceAllele": "T",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696481.1:n.1944T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5052,
          "referenceAllele": "T",
          "start": 5051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696482.1:c.5052T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512656.1:n.5052T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5400,
          "referenceAllele": "T",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696483.1:c.5312T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512657.1:p.Leu1771Arg",
        "hgvsWellDefined": "ENSP00000512657.1:p.Leu1771Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5400,
          "referenceAllele": "T",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696484.1:c.5312T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512658.1:p.Leu1771Arg",
        "hgvsWellDefined": "ENSP00000512658.1:p.Leu1771Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5392,
          "endIntronDirection": "-",
          "endIntronOffset": 48,
          "referenceAllele": "T",
          "start": 5392,
          "startIntronDirection": "-",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696485.1:c.5305-49T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512659.1:n.5305-49T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5312,
          "referenceAllele": "T",
          "start": 5311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696489.1:c.5312T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512660.1:p.Leu1771Arg",
        "hgvsWellDefined": "ENSP00000512660.1:p.Leu1771Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5400,
          "referenceAllele": "T",
          "start": 5399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696490.1:c.5312T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512661.1:p.Leu1771Arg",
        "hgvsWellDefined": "ENSP00000512661.1:p.Leu1771Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5402,
          "referenceAllele": "T",
          "start": 5401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000282041.11:c.5312T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282041.4:p.Leu1771Arg",
        "hgvsWellDefined": "ENSP00000282041.4:p.Leu1771Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743640",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282041.11:c.5312T>G"
          },
          "RefSeq": {
            "hgvs": "NM_020964.3:c.5312T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282041.4:p.Leu1771Arg"
          },
          "RefSeq": {
            "hgvs": "NP_066015.2:p.Leu1771Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5347,
          "referenceAllele": "T",
          "start": 5346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000282041.9:c.5312T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282041.4:p.Leu1771Arg",
        "hgvsWellDefined": "ENSP00000282041.4:p.Leu1771Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2091,
          "referenceAllele": "T",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000585906.5:n.2091T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2071,
          "referenceAllele": "T",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587884.1:c.*1052T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466990.1:n.*1052T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1937,
          "endIntronDirection": "-",
          "endIntronOffset": 48,
          "referenceAllele": "T",
          "start": 1937,
          "startIntronDirection": "-",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000590884.5:c.1930-49T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466403.1:n.1930-49T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1945,
          "referenceAllele": "T",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000592272.5:c.1937T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467464.1:p.Leu646Arg",
        "hgvsWellDefined": "ENSP00000467464.1:p.Leu646Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5412,
          "referenceAllele": "T",
          "start": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "NM_020964.2:c.5312T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066015.2:p.Leu1771Arg",
        "hgvsWellDefined": "NP_066015.2:p.Leu1771Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5439,
          "referenceAllele": "T",
          "start": 5438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526120.1:c.5339T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524422.1:p.Leu1780Arg",
        "hgvsWellDefined": "XP_011524422.1:p.Leu1780Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5439,
          "referenceAllele": "T",
          "start": 5438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526121.1:c.5339T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524423.1:p.Leu1780Arg",
        "hgvsWellDefined": "XP_011524423.1:p.Leu1780Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5412,
          "referenceAllele": "T",
          "start": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526122.1:c.5312T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524424.1:p.Leu1771Arg",
        "hgvsWellDefined": "XP_011524424.1:p.Leu1771Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5439,
          "referenceAllele": "T",
          "start": 5438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526123.1:c.5339T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524425.1:p.Leu1780Arg",
        "hgvsWellDefined": "XP_011524425.1:p.Leu1780Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5439,
          "referenceAllele": "T",
          "start": 5438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526124.1:c.5339T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524426.1:p.Leu1780Arg",
        "hgvsWellDefined": "XP_011524426.1:p.Leu1780Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5298,
          "referenceAllele": "T",
          "start": 5297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526125.1:c.5198T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524427.1:p.Leu1733Arg",
        "hgvsWellDefined": "XP_011524427.1:p.Leu1733Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5462,
          "referenceAllele": "T",
          "start": 5461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526126.1:c.4274T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524428.1:p.Leu1425Arg",
        "hgvsWellDefined": "XP_011524428.1:p.Leu1425Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5439,
          "referenceAllele": "T",
          "start": 5438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526127.1:c.5339T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524429.1:p.Leu1780Arg",
        "hgvsWellDefined": "XP_011524429.1:p.Leu1780Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5431,
          "endIntronDirection": "-",
          "endIntronOffset": 48,
          "referenceAllele": "T",
          "start": 5431,
          "startIntronDirection": "-",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526128.1:c.5332-49T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524430.1:n.5332-49T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5412,
          "referenceAllele": "T",
          "start": 5411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_935244.1:n.5412T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5402,
          "referenceAllele": "T",
          "start": 5401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "NM_020964.3:c.5312T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066015.2:p.Leu1771Arg",
        "hgvsWellDefined": "NP_066015.2:p.Leu1771Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526024",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282041.11:c.5312T>G"
          },
          "RefSeq": {
            "hgvs": "NM_020964.3:c.5312T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282041.4:p.Leu1771Arg"
          },
          "RefSeq": {
            "hgvs": "NP_066015.2:p.Leu1771Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5394,
          "referenceAllele": "T",
          "start": 5393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025889.1:c.5312T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881378.1:p.Leu1771Arg",
        "hgvsWellDefined": "XP_016881378.1:p.Leu1771Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5394,
          "referenceAllele": "T",
          "start": 5393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025890.2:c.5312T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881379.1:p.Leu1771Arg",
        "hgvsWellDefined": "XP_016881379.1:p.Leu1771Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5271,
          "referenceAllele": "T",
          "start": 5270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025891.1:c.5171T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881380.1:p.Leu1724Arg",
        "hgvsWellDefined": "XP_016881380.1:p.Leu1724Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5437,
          "referenceAllele": "T",
          "start": 5436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025892.1:c.4247T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881381.1:p.Leu1416Arg",
        "hgvsWellDefined": "XP_016881381.1:p.Leu1416Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3284,
          "referenceAllele": "T",
          "start": 3283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025893.1:c.1937T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881382.1:p.Leu646Arg",
        "hgvsWellDefined": "XP_016881382.1:p.Leu646Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5394,
          "referenceAllele": "T",
          "start": 5393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_001753256.1:n.5394T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5386,
          "endIntronDirection": "-",
          "endIntronOffset": 48,
          "referenceAllele": "T",
          "start": 5386,
          "startIntronDirection": "-",
          "startIntronOffset": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_001753257.1:n.5387-49T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599809"
    }
  ],
  "type": "nucleotide"
}