{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA360489783",
  "communityStandardTitle": [
    "NM_001040458.3(ERAP1):c.1583A>T (p.Lys528Met)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.96124330T>A?assembly=hg19",
        "id": "chr5:g.96124330T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.96788627T>A?assembly=hg38",
        "id": "chr5:g.96788627T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/30187",
        "rs": 30187
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 96788627,
          "referenceAllele": "T",
          "start": 96788626
        }
      ],
      "hgvs": [
        "NC_000005.10:g.96788627T>A",
        "CM000667.2:g.96788627T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 96124330,
          "referenceAllele": "T",
          "start": 96124329
        }
      ],
      "hgvs": [
        "NC_000005.9:g.96124330T>A",
        "CM000667.1:g.96124330T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 96150086,
          "referenceAllele": "T",
          "start": 96150085
        }
      ],
      "hgvs": [
        "NC_000005.8:g.96150086T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 30519,
          "referenceAllele": "A",
          "start": 30518
        }
      ],
      "hgvs": [
        "NG_027839.1:g.30519A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152357,
          "referenceAllele": "A",
          "start": 152356
        }
      ],
      "hgvs": [
        "NG_027839.2:g.152357A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616277"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1686,
          "referenceAllele": "A",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000443439.7:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406304.2:p.Lys528Met",
        "hgvsWellDefined": "ENSP00000406304.2:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755948",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000443439.7:c.1583A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001040458.3:c.1583A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406304.2:p.Lys528Met"
          },
          "RefSeq": {
            "hgvs": "NP_001035548.1:p.Lys528Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "A",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000296754.7:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296754.3:p.Lys528Met",
        "hgvsWellDefined": "ENSP00000296754.3:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1650,
          "referenceAllele": "A",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000443439.6:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406304.2:p.Lys528Met",
        "hgvsWellDefined": "ENSP00000406304.2:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 246,
          "referenceAllele": "A",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "ENST00000507859.1:n.246A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1930,
          "referenceAllele": "A",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001040458.1:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035548.1:p.Lys528Met",
        "hgvsWellDefined": "NP_001035548.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1688,
          "referenceAllele": "A",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001198541.1:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185470.1:p.Lys528Met",
        "hgvsWellDefined": "NP_001185470.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016768"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070930386",
      "coordinates": [
        {
          "allele": "T",
          "end": 1930,
          "referenceAllele": "A",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_016442.3:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057526.3:p.Lys528Met",
        "hgvsWellDefined": "NP_057526.3:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1876,
          "referenceAllele": "A",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_005272015.3:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272072.1:p.Lys528Met",
        "hgvsWellDefined": "XP_005272072.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "A",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_005272016.3:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272073.1:p.Lys528Met",
        "hgvsWellDefined": "XP_005272073.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4091,
          "referenceAllele": "A",
          "start": 4090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543480.1:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541782.1:p.Lys528Met",
        "hgvsWellDefined": "XP_011541782.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4088,
          "referenceAllele": "A",
          "start": 4087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543481.1:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541783.1:p.Lys528Met",
        "hgvsWellDefined": "XP_011541783.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4095,
          "referenceAllele": "A",
          "start": 4094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543482.1:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541784.1:p.Lys528Met",
        "hgvsWellDefined": "XP_011541784.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4258,
          "referenceAllele": "A",
          "start": 4257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543483.1:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541785.1:p.Lys528Met",
        "hgvsWellDefined": "XP_011541785.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4087,
          "referenceAllele": "A",
          "start": 4086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543484.1:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541786.1:p.Lys528Met",
        "hgvsWellDefined": "XP_011541786.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3907,
          "referenceAllele": "A",
          "start": 3906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543485.1:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541787.1:p.Lys528Met",
        "hgvsWellDefined": "XP_011541787.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4091,
          "referenceAllele": "A",
          "start": 4090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543486.1:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541788.1:p.Lys528Met",
        "hgvsWellDefined": "XP_011541788.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4091,
          "referenceAllele": "A",
          "start": 4090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543487.1:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541789.1:p.Lys528Met",
        "hgvsWellDefined": "XP_011541789.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1930,
          "referenceAllele": "A",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001040458.2:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035548.1:p.Lys528Met",
        "hgvsWellDefined": "NP_001035548.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1688,
          "referenceAllele": "A",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001198541.2:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185470.1:p.Lys528Met",
        "hgvsWellDefined": "NP_001185470.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1926,
          "referenceAllele": "A",
          "start": 1925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001349244.1:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336173.1:p.Lys528Met",
        "hgvsWellDefined": "NP_001336173.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS518552"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070930386",
      "coordinates": [
        {
          "allele": "T",
          "end": 1930,
          "referenceAllele": "A",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_016442.4:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057526.3:p.Lys528Met",
        "hgvsWellDefined": "NP_057526.3:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1876,
          "referenceAllele": "A",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_005272015.5:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272072.1:p.Lys528Met",
        "hgvsWellDefined": "XP_005272072.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "A",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_005272016.4:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272073.1:p.Lys528Met",
        "hgvsWellDefined": "XP_005272073.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543480.2:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541782.1:p.Lys528Met",
        "hgvsWellDefined": "XP_011541782.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555227"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4147,
          "referenceAllele": "A",
          "start": 4146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543481.2:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541783.1:p.Lys528Met",
        "hgvsWellDefined": "XP_011541783.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4146,
          "referenceAllele": "A",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543484.2:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541786.1:p.Lys528Met",
        "hgvsWellDefined": "XP_011541786.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3966,
          "referenceAllele": "A",
          "start": 3965
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543485.2:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541787.1:p.Lys528Met",
        "hgvsWellDefined": "XP_011541787.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555230"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4150,
          "referenceAllele": "A",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_011543486.3:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541788.1:p.Lys528Met",
        "hgvsWellDefined": "XP_011541788.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3992,
          "referenceAllele": "A",
          "start": 3991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_017009581.1:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865070.1:p.Lys528Met",
        "hgvsWellDefined": "XP_016865070.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1792,
          "referenceAllele": "A",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_017009583.2:c.488A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865072.1:p.Lys163Met",
        "hgvsWellDefined": "XP_016865072.1:p.Lys163Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3989,
          "referenceAllele": "A",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XM_024446113.1:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024301881.1:p.Lys528Met",
        "hgvsWellDefined": "XP_024301881.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1817,
          "endIntronDirection": "+",
          "endIntronOffset": 1669,
          "referenceAllele": "A",
          "start": 1817,
          "startIntronDirection": "+",
          "startIntronOffset": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "XR_001742119.2:n.1817+1669A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1686,
          "referenceAllele": "A",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001040458.3:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035548.1:p.Lys528Met",
        "hgvsWellDefined": "NP_001035548.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663169",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000443439.7:c.1583A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001040458.3:c.1583A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406304.2:p.Lys528Met"
          },
          "RefSeq": {
            "hgvs": "NP_001035548.1:p.Lys528Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1688,
          "referenceAllele": "A",
          "start": 1687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001198541.3:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001185470.1:p.Lys528Met",
        "hgvsWellDefined": "NP_001185470.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1682,
          "referenceAllele": "A",
          "start": 1681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_001349244.2:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001336173.1:p.Lys528Met",
        "hgvsWellDefined": "NP_001336173.1:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3070930386",
      "coordinates": [
        {
          "allele": "T",
          "end": 1686,
          "referenceAllele": "A",
          "start": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NM_016442.5:c.1583A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057526.3:p.Lys528Met",
        "hgvsWellDefined": "NP_057526.3:p.Lys528Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728171"
    }
  ],
  "type": "nucleotide"
}