{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827391580",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 705,
          "referenceAllele": "A",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NP_001333828.1:p.Ala705Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA135812",
          "hgvs": "NM_001346899.1:c.2113G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622945"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=54406[alleleid]",
        "alleleId": 54406,
        "preferredName": "NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45239",
        "RCV": [
          "RCV000038395",
          "RCV000425827",
          "RCV000442888"
        ],
        "variationId": 45239
      }
    ]
  },
  "type": "amino-acid"
}