{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3070933125",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 56,
          "referenceAllele": "E",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NP_057526.3:p.Glu56Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3352626",
          "hgvs": "NM_016442.5:c.166G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175226"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4433520[alleleid]",
        "alleleId": 4433520,
        "preferredName": "NM_001040458.3(ERAP1):c.166G>A (p.Glu56Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4319285",
        "RCV": [
          "RCV005972407",
          "RCV005972409",
          "RCV005972410",
          "RCV005972411",
          "RCV005972408"
        ],
        "variationId": 4319285
      }
    ]
  },
  "type": "amino-acid"
}