{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA357881003",
  "communityStandardTitle": [
    "NM_001963.6(EGF):c.1292G>C (p.Arg431Thr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.110883121G>C?assembly=hg19",
        "id": "chr4:g.110883121G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.109961965G>C?assembly=hg38",
        "id": "chr4:g.109961965G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11568943",
        "rs": 11568943
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-109961965-G-C?dataset=gnomad_r4",
        "id": "4-109961965-G-C",
        "variant": "4:109961965 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 109961965,
          "referenceAllele": "G",
          "start": 109961964
        }
      ],
      "hgvs": [
        "NC_000004.12:g.109961965G>C",
        "CM000666.2:g.109961965G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 110883121,
          "referenceAllele": "G",
          "start": 110883120
        }
      ],
      "hgvs": [
        "NC_000004.11:g.110883121G>C",
        "CM000666.1:g.110883121G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 111102570,
          "referenceAllele": "G",
          "start": 111102569
        }
      ],
      "hgvs": [
        "NC_000004.10:g.111102570G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54082,
          "referenceAllele": "G",
          "start": 54081
        }
      ],
      "hgvs": [
        "NG_011441.1:g.54082G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001719"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54082,
          "referenceAllele": "G",
          "start": 54081
        }
      ],
      "hgvs": [
        "NG_011441.2:g.54082G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673537"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000265171.10:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265171.5:p.Arg431Thr",
        "hgvsWellDefined": "ENSP00000265171.5:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742801",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265171.10:c.1292G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001963.6:c.1292G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265171.5:p.Arg431Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001954.2:p.Arg431Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1613,
          "referenceAllele": "G",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000652245.1:c.1166G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498337.1:p.Arg389Thr",
        "hgvsWellDefined": "ENSP00000498337.1:p.Arg389Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1737,
          "referenceAllele": "G",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000265171.9:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265171.5:p.Arg431Thr",
        "hgvsWellDefined": "ENSP00000265171.5:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000503392.1:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421384.1:p.Arg431Thr",
        "hgvsWellDefined": "ENSP00000421384.1:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335715"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 530,
          "referenceAllele": "G",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000504633.1:n.530G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS336639"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1618,
          "referenceAllele": "G",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "ENST00000509793.5:c.1166G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424316.1:p.Arg389Thr",
        "hgvsWellDefined": "ENSP00000424316.1:p.Arg389Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178130.1:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171601.1:p.Arg431Thr",
        "hgvsWellDefined": "NP_001171601.1:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015888"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1618,
          "referenceAllele": "G",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178131.1:c.1166G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171602.1:p.Arg389Thr",
        "hgvsWellDefined": "NP_001171602.1:p.Arg389Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069875844",
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001963.4:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001954.2:p.Arg431Thr",
        "hgvsWellDefined": "NP_001954.2:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027289"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262796.2:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262853.1:p.Arg431Thr",
        "hgvsWellDefined": "XP_005262853.1:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1619,
          "referenceAllele": "G",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262797.2:c.1166G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262854.1:p.Arg389Thr",
        "hgvsWellDefined": "XP_005262854.1:p.Arg389Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262798.2:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262855.1:p.Arg431Thr",
        "hgvsWellDefined": "XP_005262855.1:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262800.2:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262857.1:p.Arg431Thr",
        "hgvsWellDefined": "XP_005262857.1:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063571"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262801.2:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262858.1:p.Arg431Thr",
        "hgvsWellDefined": "XP_005262858.1:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063572"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_005262802.2:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262859.1:p.Arg431Thr",
        "hgvsWellDefined": "XP_005262859.1:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063573"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_006714124.2:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714187.1:p.Arg431Thr",
        "hgvsWellDefined": "XP_006714187.1:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1394,
          "referenceAllele": "G",
          "start": 1393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_011531707.1:c.1181G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530009.1:p.Arg394Thr",
        "hgvsWellDefined": "XP_011530009.1:p.Arg394Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_011531708.1:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530010.1:p.Arg431Thr",
        "hgvsWellDefined": "XP_011530010.1:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098740"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_011531709.1:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530011.1:p.Arg431Thr",
        "hgvsWellDefined": "XP_011530011.1:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098741"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XR_427532.2:n.1745G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XR_938699.1:n.1745G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133397"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178130.2:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171601.1:p.Arg431Thr",
        "hgvsWellDefined": "NP_001171601.1:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511750"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1618,
          "referenceAllele": "G",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178131.2:c.1166G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171602.1:p.Arg389Thr",
        "hgvsWellDefined": "NP_001171602.1:p.Arg389Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511751"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1618,
          "referenceAllele": "G",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001357021.1:c.1166G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001343950.1:p.Arg389Thr",
        "hgvsWellDefined": "NP_001343950.1:p.Arg389Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069875844",
      "coordinates": [
        {
          "allele": "C",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001963.5:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001954.2:p.Arg431Thr",
        "hgvsWellDefined": "NP_001954.2:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524937"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007845.1:c.1316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863334.1:p.Arg439Thr",
        "hgvsWellDefined": "XP_016863334.1:p.Arg439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007846.1:c.1316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863335.1:p.Arg439Thr",
        "hgvsWellDefined": "XP_016863335.1:p.Arg439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007847.1:c.1316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863336.1:p.Arg439Thr",
        "hgvsWellDefined": "XP_016863336.1:p.Arg439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562504"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1643,
          "referenceAllele": "G",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007848.1:c.1190G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863337.1:p.Arg397Thr",
        "hgvsWellDefined": "XP_016863337.1:p.Arg397Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562505"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007849.1:c.1316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863338.1:p.Arg439Thr",
        "hgvsWellDefined": "XP_016863338.1:p.Arg439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007850.1:c.1316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863339.1:p.Arg439Thr",
        "hgvsWellDefined": "XP_016863339.1:p.Arg439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562507"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007851.1:c.1316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863340.1:p.Arg439Thr",
        "hgvsWellDefined": "XP_016863340.1:p.Arg439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562508"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007853.1:c.1316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863342.1:p.Arg439Thr",
        "hgvsWellDefined": "XP_016863342.1:p.Arg439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007854.1:c.1316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863343.1:p.Arg439Thr",
        "hgvsWellDefined": "XP_016863343.1:p.Arg439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562510"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XM_017007855.1:c.1316G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863344.1:p.Arg439Thr",
        "hgvsWellDefined": "XP_016863344.1:p.Arg439Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XR_001741156.1:n.1769G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591198"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "XR_001741157.1:n.1769G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178130.3:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171601.1:p.Arg431Thr",
        "hgvsWellDefined": "NP_001171601.1:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1619,
          "referenceAllele": "G",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001178131.3:c.1166G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171602.1:p.Arg389Thr",
        "hgvsWellDefined": "NP_001171602.1:p.Arg389Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1619,
          "referenceAllele": "G",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001357021.2:c.1166G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001343950.1:p.Arg389Thr",
        "hgvsWellDefined": "NP_001343950.1:p.Arg389Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690460"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069875844",
      "coordinates": [
        {
          "allele": "C",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003229",
      "geneNCBI_id": 1950,
      "geneSymbol": "EGF",
      "hgvs": [
        "NM_001963.6:c.1292G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001954.2:p.Arg431Thr",
        "hgvsWellDefined": "NP_001954.2:p.Arg431Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695412",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265171.10:c.1292G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001963.6:c.1292G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265171.5:p.Arg431Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001954.2:p.Arg431Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}