{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108483",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 542,
          "referenceAllele": "E",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008975",
      "geneNCBI_id": 5290,
      "geneSymbol": "PIK3CA",
      "hgvs": [
        "NP_006209.2:p.Glu542Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA333572",
          "hgvs": "NM_006218.4:c.1624G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171778"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40609[alleleid]",
        "alleleId": 40609,
        "preferredName": "NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31944",
        "RCV": [
          "RCV000024622",
          "RCV000151649",
          "RCV000154513",
          "RCV000419905",
          "RCV000420078",
          "RCV000416776",
          "RCV000426691",
          "RCV000419440",
          "RCV000433007",
          "RCV000431000",
          "RCV000431872",
          "RCV000421639",
          "RCV000436932",
          "RCV000438815",
          "RCV000425548",
          "RCV000441707",
          "RCV000442348",
          "RCV000430763",
          "RCV000435811",
          "RCV000445059",
          "RCV000709693",
          "RCV001255687",
          "RCV001728093",
          "RCV001730477",
          "RCV001327962",
          "RCV001836714",
          "RCV003458190",
          "RCV003987334",
          "RCV002513230",
          "RCV004532404",
          "RCV004527296",
          "RCV003764635"
        ],
        "variationId": 31944
      }
    ]
  },
  "type": "amino-acid"
}