{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA235738",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 669,
          "referenceAllele": "Q",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003386",
      "geneNCBI_id": 1969,
      "geneSymbol": "EPHA2",
      "hgvs": [
        "NP_004422.2:p.Gln669His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA235737",
          "hgvs": "NM_004431.5:c.2007G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA338624085",
          "hgvs": "NM_004431.5:c.2007G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170134"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188784[alleleid]",
        "alleleId": 188784,
        "preferredName": "NM_004431.5(EPHA2):c.2007G>T (p.Gln669His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/190978",
        "RCV": [
          "RCV000171149"
        ],
        "variationId": 190978
      }
    ]
  },
  "type": "amino-acid"
}