{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830500116",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1249,
          "referenceAllele": "R",
          "start": 1248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958785.1:p.Arg1249Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4926969",
          "hgvs": "NM_201383.3:c.3746G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185513"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=502269[alleleid]",
        "alleleId": 502269,
        "preferredName": "NM_201384.3(PLEC):c.3734G>A (p.Arg1245Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/509889",
        "RCV": [
          "RCV000609789",
          "RCV001342076",
          "RCV003133397"
        ],
        "variationId": 509889
      }
    ]
  },
  "type": "amino-acid"
}