{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA402336263",
  "communityStandardTitle": [
    "NM_020964.3(EPG5):c.7217T>G (p.Val2406Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1511533[alleleid]",
        "alleleId": 1511533,
        "preferredName": "NM_020964.3(EPG5):c.7217T>G (p.Val2406Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1463096",
        "RCV": [
          "RCV001960883"
        ],
        "variationId": 1463096
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.43438540A>C?assembly=hg19",
        "id": "chr18:g.43438540A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.45858575A>C?assembly=hg38",
        "id": "chr18:g.45858575A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1489617016",
        "rs": 1489617016
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-45858575-A-C?dataset=gnomad_r3",
        "id": "18-45858575-A-C",
        "variant": "18:45858575 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-45858575-A-C?dataset=gnomad_r4",
        "id": "18-45858575-A-C",
        "variant": "18:45858575 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 45858575,
          "referenceAllele": "A",
          "start": 45858574
        }
      ],
      "hgvs": [
        "NC_000018.10:g.45858575A>C",
        "CM000680.2:g.45858575A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 43438540,
          "referenceAllele": "A",
          "start": 43438539
        }
      ],
      "hgvs": [
        "NC_000018.9:g.43438540A>C",
        "CM000680.1:g.43438540A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "C",
          "end": 41692538,
          "referenceAllele": "A",
          "start": 41692537
        }
      ],
      "hgvs": [
        "NC_000018.8:g.41692538A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 113765,
          "referenceAllele": "T",
          "start": 113764
        }
      ],
      "hgvs": [
        "NG_042838.1:g.113765T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS006040"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5478,
          "referenceAllele": "T",
          "start": 5477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000586655.2:n.5478T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7343,
          "referenceAllele": "T",
          "start": 7342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587884.2:c.7343T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466990.2:n.7343T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3082,
          "referenceAllele": "T",
          "start": 3081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587973.2:n.3082T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6878,
          "referenceAllele": "T",
          "start": 6877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000590884.6:c.6878T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466403.2:n.6878T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7110,
          "referenceAllele": "T",
          "start": 7109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000592272.6:c.7110T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467464.2:n.7110T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906112"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3849,
          "referenceAllele": "T",
          "start": 3848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696481.1:n.3849T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6957,
          "referenceAllele": "T",
          "start": 6956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696482.1:c.6957T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512656.1:n.6957T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907934"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7305,
          "referenceAllele": "T",
          "start": 7304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696483.1:c.7217T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512657.1:p.Val2406Gly",
        "hgvsWellDefined": "ENSP00000512657.1:p.Val2406Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907935"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7305,
          "referenceAllele": "T",
          "start": 7304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696484.1:c.7217T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512658.1:p.Val2406Gly",
        "hgvsWellDefined": "ENSP00000512658.1:p.Val2406Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7246,
          "referenceAllele": "T",
          "start": 7245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696485.1:c.*1809T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512659.1:n.*1809T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7214,
          "referenceAllele": "T",
          "start": 7213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696489.1:c.7214T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512660.1:p.Val2405Gly",
        "hgvsWellDefined": "ENSP00000512660.1:p.Val2405Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7305,
          "referenceAllele": "T",
          "start": 7304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000696490.1:c.7217T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512661.1:p.Val2406Gly",
        "hgvsWellDefined": "ENSP00000512661.1:p.Val2406Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7307,
          "referenceAllele": "T",
          "start": 7306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000282041.11:c.7217T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282041.4:p.Val2406Gly",
        "hgvsWellDefined": "ENSP00000282041.4:p.Val2406Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743640",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282041.11:c.7217T>G"
          },
          "RefSeq": {
            "hgvs": "NM_020964.3:c.7217T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282041.4:p.Val2406Gly"
          },
          "RefSeq": {
            "hgvs": "NP_066015.2:p.Val2406Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7252,
          "referenceAllele": "T",
          "start": 7251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000282041.9:c.7217T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000282041.4:p.Val2406Gly",
        "hgvsWellDefined": "ENSP00000282041.4:p.Val2406Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3996,
          "referenceAllele": "T",
          "start": 3995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000585906.5:n.3996T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 77,
          "referenceAllele": "T",
          "start": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587262.1:n.77T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389953"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3976,
          "referenceAllele": "T",
          "start": 3975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000587884.1:c.*2957T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466990.1:n.*2957T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390394"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 994,
          "referenceAllele": "T",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000590854.5:c.994T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3511,
          "referenceAllele": "T",
          "start": 3510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000590884.5:c.*1529T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466403.1:n.*1529T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3743,
          "referenceAllele": "T",
          "start": 3742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "ENST00000592272.5:c.*1164T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467464.1:n.*1164T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573281787",
      "coordinates": [
        {
          "allele": "G",
          "end": 7317,
          "referenceAllele": "T",
          "start": 7316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "NM_020964.2:c.7217T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066015.2:p.Val2406Gly",
        "hgvsWellDefined": "NP_066015.2:p.Val2406Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7344,
          "referenceAllele": "T",
          "start": 7343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526120.1:c.7244T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524422.1:p.Val2415Gly",
        "hgvsWellDefined": "XP_011524422.1:p.Val2415Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093227"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7341,
          "referenceAllele": "T",
          "start": 7340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526121.1:c.7241T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524423.1:p.Val2414Gly",
        "hgvsWellDefined": "XP_011524423.1:p.Val2414Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7317,
          "referenceAllele": "T",
          "start": 7316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526122.1:c.7217T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524424.1:p.Val2406Gly",
        "hgvsWellDefined": "XP_011524424.1:p.Val2406Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7344,
          "referenceAllele": "T",
          "start": 7343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526123.1:c.7244T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524425.1:p.Val2415Gly",
        "hgvsWellDefined": "XP_011524425.1:p.Val2415Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7344,
          "referenceAllele": "T",
          "start": 7343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526124.1:c.7244T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524426.1:p.Val2415Gly",
        "hgvsWellDefined": "XP_011524426.1:p.Val2415Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7203,
          "referenceAllele": "T",
          "start": 7202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526125.1:c.7103T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524427.1:p.Val2368Gly",
        "hgvsWellDefined": "XP_011524427.1:p.Val2368Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7367,
          "referenceAllele": "T",
          "start": 7366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_011526126.1:c.6179T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524428.1:p.Val2060Gly",
        "hgvsWellDefined": "XP_011524428.1:p.Val2060Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7210,
          "referenceAllele": "T",
          "start": 7209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_935244.1:n.7210T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573281787",
      "coordinates": [
        {
          "allele": "G",
          "end": 7307,
          "referenceAllele": "T",
          "start": 7306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "NM_020964.3:c.7217T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066015.2:p.Val2406Gly",
        "hgvsWellDefined": "NP_066015.2:p.Val2406Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526024",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000282041.11:c.7217T>G"
          },
          "RefSeq": {
            "hgvs": "NM_020964.3:c.7217T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000282041.4:p.Val2406Gly"
          },
          "RefSeq": {
            "hgvs": "NP_066015.2:p.Val2406Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7296,
          "referenceAllele": "T",
          "start": 7295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025889.1:c.7214T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881378.1:p.Val2405Gly",
        "hgvsWellDefined": "XP_016881378.1:p.Val2405Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7299,
          "referenceAllele": "T",
          "start": 7298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025890.2:c.7217T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881379.1:p.Val2406Gly",
        "hgvsWellDefined": "XP_016881379.1:p.Val2406Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7176,
          "referenceAllele": "T",
          "start": 7175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025891.1:c.7076T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881380.1:p.Val2359Gly",
        "hgvsWellDefined": "XP_016881380.1:p.Val2359Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7342,
          "referenceAllele": "T",
          "start": 7341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025892.1:c.6152T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881381.1:p.Val2051Gly",
        "hgvsWellDefined": "XP_016881381.1:p.Val2051Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5189,
          "referenceAllele": "T",
          "start": 5188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XM_017025893.1:c.3842T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016881382.1:p.Val1281Gly",
        "hgvsWellDefined": "XP_016881382.1:p.Val1281Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7192,
          "referenceAllele": "T",
          "start": 7191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_001753256.1:n.7192T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7240,
          "referenceAllele": "T",
          "start": 7239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029331",
      "geneNCBI_id": 57724,
      "geneSymbol": "EPG5",
      "hgvs": [
        "XR_001753257.1:n.7240T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599809"
    }
  ],
  "type": "nucleotide"
}