{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1792681678",
  "communityStandardTitle": [
    "NM_000503.6(EYA1):c.1615G= (p.Glu539=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060499603",
        "rs": 1060499603
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 71211239,
          "referenceAllele": "C",
          "start": 71211238
        }
      ],
      "hgvs": [
        "NC_000008.11:g.71211239C=",
        "CM000670.2:g.71211239C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 72123474,
          "referenceAllele": "C",
          "start": 72123473
        }
      ],
      "hgvs": [
        "NC_000008.10:g.72123474C=",
        "CM000670.1:g.72123474C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 72286028,
          "referenceAllele": "C",
          "start": 72286027
        }
      ],
      "hgvs": [
        "NC_000008.9:g.72286028C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 155994,
          "referenceAllele": "G",
          "start": 155993
        }
      ],
      "hgvs": [
        "NG_011735.2:g.155994G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 341892,
          "referenceAllele": "G",
          "start": 341891
        }
      ],
      "hgvs": [
        "NG_011735.3:g.341892G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616149"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2092,
          "referenceAllele": "G",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000340726.8:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342626.3:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747927",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340726.8:c.1615G="
          },
          "RefSeq": {
            "hgvs": "NM_000503.6:c.1615G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342626.3:p.Glu539="
          },
          "RefSeq": {
            "hgvs": "NP_000494.2:p.Glu539="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2028,
          "referenceAllele": "G",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388741.7:c.1513G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373393.2:p.Glu505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1564,
          "referenceAllele": "G",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000419131.6:c.1510G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410176.1:p.Glu504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1672,
          "referenceAllele": "G",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000465115.6:c.*894G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428391.1:n.*894G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2078,
          "referenceAllele": "G",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000496494.6:n.2078G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1778,
          "referenceAllele": "G",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000642391.1:c.*1292G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496700.1:n.*1292G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2047,
          "referenceAllele": "G",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000643681.1:c.1702G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495390.1:p.Glu568="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1802,
          "referenceAllele": "G",
          "start": 1801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000644229.1:c.1597G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494568.1:p.Glu533="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767712"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000644424.1:n.685G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767810"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1858,
          "referenceAllele": "G",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000644712.1:c.1594G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496188.1:p.Glu532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2261,
          "referenceAllele": "G",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000645793.1:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496255.1:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1960,
          "referenceAllele": "G",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000647540.1:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494438.1:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1865,
          "referenceAllele": "G",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000303824.11:c.1597G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303221.7:p.Glu533="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2255,
          "referenceAllele": "G",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000340726.7:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342626.3:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1719,
          "referenceAllele": "G",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388740.4:c.1516G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373392.3:p.Glu506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2028,
          "referenceAllele": "G",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388741.6:c.1513G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373393.2:p.Glu505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1836,
          "referenceAllele": "G",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388742.8:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373394.4:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1764,
          "referenceAllele": "G",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388743.6:c.1612G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373395.2:p.Glu538="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1539,
          "referenceAllele": "G",
          "start": 1538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000419131.5:c.1510G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410176.1:p.Glu504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1672,
          "referenceAllele": "G",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000465115.5:c.*894G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428391.1:n.*894G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2110,
          "referenceAllele": "G",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000496494.5:n.2110G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075061882",
      "coordinates": [
        {
          "allele": "G",
          "end": 2255,
          "referenceAllele": "G",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_000503.5:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000494.2:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006557"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2237,
          "referenceAllele": "G",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288574.1:c.1597G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001275503.1:p.Glu533="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2173,
          "referenceAllele": "G",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288575.1:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001275504.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1847,
          "referenceAllele": "G",
          "start": 1846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172058.3:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "NP_742055.1:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042627"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1564,
          "referenceAllele": "G",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172059.3:c.1510G="
      ],
      "proteinEffect": {
        "hgvs": "NP_742056.1:p.Glu504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1719,
          "referenceAllele": "G",
          "start": 1718
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172060.3:c.1516G="
      ],
      "proteinEffect": {
        "hgvs": "NP_742057.1:p.Glu506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1796,
          "referenceAllele": "G",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517481.1:c.1687G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515783.1:p.Glu563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1835,
          "referenceAllele": "G",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517482.1:c.1702G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515784.1:p.Glu568="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1666,
          "referenceAllele": "G",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517483.1:c.1612G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515785.1:p.Glu538="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1654,
          "referenceAllele": "G",
          "start": 1653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517484.1:c.1600G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515786.1:p.Glu534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1991,
          "referenceAllele": "G",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517485.1:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515787.1:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2841,
          "referenceAllele": "G",
          "start": 2840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517486.1:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515788.1:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1762,
          "referenceAllele": "G",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517487.1:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515789.1:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2118,
          "referenceAllele": "G",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517488.1:c.1612G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515790.1:p.Glu538="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1892,
          "referenceAllele": "G",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517489.1:c.1552G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515791.1:p.Glu518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2024,
          "referenceAllele": "G",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517490.1:c.1516G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515792.1:p.Glu506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1863,
          "referenceAllele": "G",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517491.1:c.1516G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515793.1:p.Glu506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1797,
          "referenceAllele": "G",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517492.1:c.1264G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515794.1:p.Glu422="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1812,
          "referenceAllele": "G",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172059.4:c.1597G="
      ],
      "proteinEffect": {
        "hgvs": "NP_742056.2:p.Glu533="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6552,
          "referenceAllele": "G",
          "start": 6551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517483.2:c.1612G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515785.1:p.Glu538="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1999,
          "referenceAllele": "G",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517484.3:c.1687G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515786.2:p.Glu563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2041,
          "referenceAllele": "G",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013201.1:c.1702G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868690.1:p.Glu568="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013202.1:c.1702G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868691.1:p.Glu568="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2011,
          "referenceAllele": "G",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013203.2:c.1699G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868692.1:p.Glu567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1997,
          "referenceAllele": "G",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013204.2:c.1684G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868693.1:p.Glu562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2014,
          "referenceAllele": "G",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013205.2:c.1702G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868694.1:p.Glu568="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1994,
          "referenceAllele": "G",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013206.1:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868695.1:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1923,
          "referenceAllele": "G",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013207.2:c.1612G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868696.1:p.Glu538="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2118,
          "referenceAllele": "G",
          "start": 2117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013208.2:c.1612G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868697.1:p.Glu538="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1907,
          "referenceAllele": "G",
          "start": 1906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013210.2:c.1594G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868699.1:p.Glu532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1884,
          "referenceAllele": "G",
          "start": 1883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013211.2:c.1552G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868700.1:p.Glu518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2147,
          "referenceAllele": "G",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013212.2:c.1516G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868701.1:p.Glu506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6690,
          "referenceAllele": "G",
          "start": 6689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013213.1:c.1264G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016868702.1:p.Glu422="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3075061882",
      "coordinates": [
        {
          "allele": "G",
          "end": 2092,
          "referenceAllele": "G",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_000503.6:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000494.2:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662465",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340726.8:c.1615G="
          },
          "RefSeq": {
            "hgvs": "NM_000503.6:c.1615G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342626.3:p.Glu539="
          },
          "RefSeq": {
            "hgvs": "NP_000494.2:p.Glu539="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2074,
          "referenceAllele": "G",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288574.2:c.1597G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001275503.1:p.Glu533="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2010,
          "referenceAllele": "G",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288575.2:c.1249G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001275504.1:p.Glu417="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2005,
          "referenceAllele": "G",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370333.1:c.1702G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357262.1:p.Glu568="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2038,
          "referenceAllele": "G",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370334.1:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357263.1:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2294,
          "referenceAllele": "G",
          "start": 2293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370335.1:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357264.1:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1897,
          "referenceAllele": "G",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370336.1:c.1594G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001357265.1:p.Glu532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692343"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1864,
          "referenceAllele": "G",
          "start": 1863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172058.4:c.1615G="
      ],
      "proteinEffect": {
        "hgvs": "NP_742055.1:p.Glu539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1859,
          "referenceAllele": "G",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172059.5:c.1597G="
      ],
      "proteinEffect": {
        "hgvs": "NP_742056.2:p.Glu533="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700464"
    }
  ],
  "type": "nucleotide"
}