{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA360489550",
  "communityStandardTitle": [
    "NM_001040458.3(ERAP1):c.1687T>C (p.Trp563Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.96122246A>G?assembly=hg19",
        "id": "chr5:g.96122246A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.96786542A>G?assembly=hg38",
        "id": "chr5:g.96786542A>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 96786542,
          "referenceAllele": "A",
          "start": 96786541
        }
      ],
      "hgvs": [
        "NC_000005.10:g.96786542A>G",
        "CM000667.2:g.96786542A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 96122246,
          "referenceAllele": "A",
          "start": 96122245
        }
      ],
      "hgvs": [
        "NC_000005.9:g.96122246A>G",
        "CM000667.1:g.96122246A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 96148002,
          "referenceAllele": "A",
          "start": 96148001
        }
      ],
      "hgvs": [
        "NC_000005.8:g.96148002A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32603,
          "referenceAllele": "T",
          "start": 32602
        }
      ],
      "hgvs": [
        "NG_027839.1:g.32603T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003995"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 154442,
          "referenceAllele": "T",
          "start": 154441
        }
      ],
      "hgvs": [
        "NG_027839.2:g.154442T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616277"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1790,
          "referenceAllele": "T",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000443439.7:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406304.2:p.Trp563Arg",
        "hgvsWellDefined": "ENSP00000406304.2:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755948",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000443439.7:c.1687T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001040458.3:c.1687T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406304.2:p.Trp563Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001035548.1:p.Trp563Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1945,
          "referenceAllele": "T",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000296754.7:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296754.3:p.Trp563Arg",
        "hgvsWellDefined": "ENSP00000296754.3:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254374"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1754,
          "referenceAllele": "T",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000443439.6:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406304.2:p.Trp563Arg",
        "hgvsWellDefined": "ENSP00000406304.2:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297340"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 350,
          "referenceAllele": "T",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000507859.1:n.350T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 111,
          "referenceAllele": "T",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000514604.5:n.111T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2034,
          "referenceAllele": "T",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001040458.1:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035548.1:p.Trp563Arg",
        "hgvsWellDefined": "NP_001035548.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1792,
          "referenceAllele": "T",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001198541.1:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185470.1:p.Trp563Arg",
        "hgvsWellDefined": "NP_001185470.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016768"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2034,
          "referenceAllele": "T",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_016442.3:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057526.3:p.Trp563Arg",
        "hgvsWellDefined": "NP_057526.3:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034694"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1980,
          "referenceAllele": "T",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_005272015.3:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272072.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_005272072.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067096"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1945,
          "referenceAllele": "T",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_005272016.3:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272073.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_005272073.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067097"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4195,
          "referenceAllele": "T",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543480.1:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541782.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_011541782.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4192,
          "referenceAllele": "T",
          "start": 4191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543481.1:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541783.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_011541783.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110401"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4199,
          "referenceAllele": "T",
          "start": 4198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543482.1:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541784.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_011541784.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4362,
          "referenceAllele": "T",
          "start": 4361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543483.1:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541785.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_011541785.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4191,
          "referenceAllele": "T",
          "start": 4190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543484.1:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541786.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_011541786.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4011,
          "referenceAllele": "T",
          "start": 4010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543485.1:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541787.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_011541787.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4195,
          "referenceAllele": "T",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543486.1:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541788.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_011541788.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4195,
          "referenceAllele": "T",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543487.1:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541789.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_011541789.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110407"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2034,
          "referenceAllele": "T",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001040458.2:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035548.1:p.Trp563Arg",
        "hgvsWellDefined": "NP_001035548.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1792,
          "referenceAllele": "T",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001198541.2:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185470.1:p.Trp563Arg",
        "hgvsWellDefined": "NP_001185470.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511816"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2030,
          "referenceAllele": "T",
          "start": 2029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001349244.1:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336173.1:p.Trp563Arg",
        "hgvsWellDefined": "NP_001336173.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2034,
          "referenceAllele": "T",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_016442.4:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057526.3:p.Trp563Arg",
        "hgvsWellDefined": "NP_057526.3:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1980,
          "referenceAllele": "T",
          "start": 1979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_005272015.5:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272072.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_005272072.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537212"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1945,
          "referenceAllele": "T",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_005272016.4:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272073.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_005272073.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4254,
          "referenceAllele": "T",
          "start": 4253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543480.2:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541782.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_011541782.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555227"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4251,
          "referenceAllele": "T",
          "start": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543481.2:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541783.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_011541783.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555228"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4250,
          "referenceAllele": "T",
          "start": 4249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543484.2:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541786.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_011541786.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555229"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4070,
          "referenceAllele": "T",
          "start": 4069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543485.2:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541787.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_011541787.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555230"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4254,
          "referenceAllele": "T",
          "start": 4253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543486.3:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541788.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_011541788.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4096,
          "referenceAllele": "T",
          "start": 4095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_017009581.1:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865070.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_016865070.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1896,
          "referenceAllele": "T",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_017009583.2:c.592T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865072.1:p.Trp198Arg",
        "hgvsWellDefined": "XP_016865072.1:p.Trp198Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4093,
          "referenceAllele": "T",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_024446113.1:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301881.1:p.Trp563Arg",
        "hgvsWellDefined": "XP_024301881.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579789"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1825,
          "referenceAllele": "T",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XR_001742119.2:n.1825T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591958"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1790,
          "referenceAllele": "T",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001040458.3:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035548.1:p.Trp563Arg",
        "hgvsWellDefined": "NP_001035548.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663169",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000443439.7:c.1687T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001040458.3:c.1687T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406304.2:p.Trp563Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001035548.1:p.Trp563Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1792,
          "referenceAllele": "T",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001198541.3:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185470.1:p.Trp563Arg",
        "hgvsWellDefined": "NP_001185470.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1786,
          "referenceAllele": "T",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001349244.2:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336173.1:p.Trp563Arg",
        "hgvsWellDefined": "NP_001336173.1:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719267"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1790,
          "referenceAllele": "T",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_016442.5:c.1687T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_057526.3:p.Trp563Arg",
        "hgvsWellDefined": "NP_057526.3:p.Trp563Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728171"
    }
  ],
  "type": "nucleotide"
}