{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826221962",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 730,
          "referenceAllele": "Q",
          "start": 729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018173",
      "geneNCBI_id": 51752,
      "geneSymbol": "ERAP1",
      "hgvs": [
        "NP_001185470.1:p.Gln730Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3352010",
          "hgvs": "NM_001198541.3:c.2188C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157230"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2849569[alleleid]",
        "alleleId": 2849569,
        "preferredName": "NM_001040458.3(ERAP1):c.2188C>G (p.Gln730Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2688532",
        "RCV": [
          "RCV003490426"
        ],
        "variationId": 2688532
      }
    ]
  },
  "type": "amino-acid"
}