{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1484842209",
  "communityStandardTitle": [
    "NM_001963.6(EGF):c.3370+267G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11569126",
        "rs": 11569126
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 110008497,
          "referenceAllele": "G",
          "start": 110008496
        }
      ],
      "hgvs": [
        "NC_000004.12:g.110008497G=",
        "CM000666.2:g.110008497G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 110929653,
          "referenceAllele": "G",
          "start": 110929652
        }
      ],
      "hgvs": [
        "NC_000004.11:g.110929653G=",
        "CM000666.1:g.110929653G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 111149102,
          "referenceAllele": "G",
          "start": 111149101
        }
      ],
      "hgvs": [
        "NC_000004.10:g.111149102G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 100614,
          "referenceAllele": "G",
          "start": 100613
        }
      ],
      "hgvs": [
        "NG_011441.1:g.100614G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 100614,
          "referenceAllele": "G",
          "start": 100613
        }
      ],
      "hgvs": [
        "NG_011441.2:g.100614G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673537"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3823,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 3823,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000265171.10:c.3370+267G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265171.5:n.3370+267G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265171.10:c.3370+267G="
          },
          "RefSeq": {
            "hgvs": "NM_001963.6:c.3370+267G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265171.5:n.3370+267G="
          },
          "RefSeq": {
            "hgvs": "NP_001954.2:n.3370+267G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3369,
          "endIntronDirection": "-",
          "endIntronOffset": 2704,
          "referenceAllele": "G",
          "start": 3369,
          "startIntronDirection": "-",
          "startIntronOffset": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000652245.1:c.2923-2705G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498337.1:n.2923-2705G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3815,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 3815,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000265171.9:c.3370+267G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265171.5:n.3370+267G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3342,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 3342,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000503392.1:c.3247+267G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421384.1:n.3247+267G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335715"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3696,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 3696,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000509793.5:c.3244+267G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424316.1:n.3244+267G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340481"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 976,
          "endIntronDirection": "-",
          "endIntronOffset": 2704,
          "referenceAllele": "G",
          "start": 976,
          "startIntronDirection": "-",
          "startIntronOffset": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000509996.1:n.977-2705G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS340626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 201,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 201,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000537316.5:n.201+267G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS360710"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 122,
          "endIntronDirection": "-",
          "endIntronOffset": 2704,
          "referenceAllele": "G",
          "start": 122,
          "startIntronDirection": "-",
          "startIntronOffset": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000540840.1:n.123-2705G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362620"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 376,
          "endIntronDirection": "-",
          "endIntronOffset": 2704,
          "referenceAllele": "G",
          "start": 376,
          "startIntronDirection": "-",
          "startIntronOffset": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000544918.1:n.377-2705G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS364827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3699,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 3699,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178130.1:c.3247+267G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171601.1:n.3247+267G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015888"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3696,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 3696,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178131.1:c.3244+267G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171602.1:n.3244+267G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3822,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 3822,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001963.4:c.3370+267G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001954.2:n.3370+267G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027289"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3847,
          "endIntronDirection": "+",
          "endIntronOffset": 243,
          "referenceAllele": "G",
          "start": 3847,
          "startIntronDirection": "+",
          "startIntronOffset": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262796.2:c.3394+243G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262853.1:n.3394+243G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3721,
          "endIntronDirection": "+",
          "endIntronOffset": 243,
          "referenceAllele": "G",
          "start": 3721,
          "startIntronDirection": "+",
          "startIntronOffset": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262797.2:c.3268+243G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262854.1:n.3268+243G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3604,
          "endIntronDirection": "+",
          "endIntronOffset": 243,
          "referenceAllele": "G",
          "start": 3604,
          "startIntronDirection": "+",
          "startIntronOffset": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262798.2:c.3151+243G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262855.1:n.3151+243G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3501,
          "endIntronDirection": "-",
          "endIntronOffset": 2704,
          "referenceAllele": "G",
          "start": 3501,
          "startIntronDirection": "-",
          "startIntronOffset": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262800.2:c.3049-2705G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262857.1:n.3049-2705G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2944,
          "endIntronDirection": "-",
          "endIntronOffset": 2704,
          "referenceAllele": "G",
          "start": 2944,
          "startIntronDirection": "-",
          "startIntronOffset": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262801.2:c.2492-2705G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262858.1:n.2492-2705G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3744,
          "endIntronDirection": "-",
          "endIntronOffset": 2704,
          "referenceAllele": "G",
          "start": 3744,
          "startIntronDirection": "-",
          "startIntronOffset": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_006714124.2:c.3292-2705G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006714187.1:n.3292-2705G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070509"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3496,
          "endIntronDirection": "+",
          "endIntronOffset": 243,
          "referenceAllele": "G",
          "start": 3496,
          "startIntronDirection": "+",
          "startIntronOffset": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_011531707.1:c.3283+243G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011530009.1:n.3283+243G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098739"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3305,
          "endIntronDirection": "-",
          "endIntronOffset": 2704,
          "referenceAllele": "G",
          "start": 3305,
          "startIntronDirection": "-",
          "startIntronOffset": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XR_427532.2:n.3306-2705G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117766"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3699,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 3699,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178130.2:c.3247+267G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171601.1:n.3247+267G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511750"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3696,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 3696,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178131.2:c.3244+267G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171602.1:n.3244+267G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511751"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3374,
          "endIntronDirection": "-",
          "endIntronOffset": 2704,
          "referenceAllele": "G",
          "start": 3374,
          "startIntronDirection": "-",
          "startIntronOffset": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001357021.1:c.2923-2705G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001343950.1:n.2923-2705G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3822,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 3822,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001963.5:c.3370+267G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001954.2:n.3370+267G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3871,
          "endIntronDirection": "+",
          "endIntronOffset": 243,
          "referenceAllele": "G",
          "start": 3871,
          "startIntronDirection": "+",
          "startIntronOffset": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007845.1:c.3418+243G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863334.1:n.3418+243G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3847,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 3847,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007846.1:c.3394+267G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863335.1:n.3394+267G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3748,
          "endIntronDirection": "+",
          "endIntronOffset": 243,
          "referenceAllele": "G",
          "start": 3748,
          "startIntronDirection": "+",
          "startIntronOffset": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007847.1:c.3295+243G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863336.1:n.3295+243G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562504"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3745,
          "endIntronDirection": "+",
          "endIntronOffset": 243,
          "referenceAllele": "G",
          "start": 3745,
          "startIntronDirection": "+",
          "startIntronOffset": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007848.1:c.3292+243G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863337.1:n.3292+243G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3628,
          "endIntronDirection": "+",
          "endIntronOffset": 243,
          "referenceAllele": "G",
          "start": 3628,
          "startIntronDirection": "+",
          "startIntronOffset": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007849.1:c.3175+243G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863338.1:n.3175+243G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3768,
          "endIntronDirection": "-",
          "endIntronOffset": 2704,
          "referenceAllele": "G",
          "start": 3768,
          "startIntronDirection": "-",
          "startIntronOffset": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007850.1:c.3316-2705G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863339.1:n.3316-2705G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3525,
          "endIntronDirection": "-",
          "endIntronOffset": 2704,
          "referenceAllele": "G",
          "start": 3525,
          "startIntronDirection": "-",
          "startIntronOffset": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007851.1:c.3073-2705G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016863340.1:n.3073-2705G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3329,
          "endIntronDirection": "-",
          "endIntronOffset": 2704,
          "referenceAllele": "G",
          "start": 3329,
          "startIntronDirection": "-",
          "startIntronOffset": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XR_001741157.1:n.3330-2705G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3700,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 3700,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178130.3:c.3247+267G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171601.1:n.3247+267G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3697,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 3697,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178131.3:c.3244+267G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171602.1:n.3244+267G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3375,
          "endIntronDirection": "-",
          "endIntronOffset": 2704,
          "referenceAllele": "G",
          "start": 3375,
          "startIntronDirection": "-",
          "startIntronOffset": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001357021.2:c.2923-2705G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001343950.1:n.2923-2705G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690460"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3823,
          "endIntronDirection": "+",
          "endIntronOffset": 267,
          "referenceAllele": "G",
          "start": 3823,
          "startIntronDirection": "+",
          "startIntronOffset": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001963.6:c.3370+267G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001954.2:n.3370+267G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695412",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265171.10:c.3370+267G="
          },
          "RefSeq": {
            "hgvs": "NM_001963.6:c.3370+267G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265171.5:n.3370+267G="
          },
          "RefSeq": {
            "hgvs": "NP_001954.2:n.3370+267G="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}