{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658669643",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 3145,
          "referenceAllele": "R",
          "start": 3144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958782.1:p.Arg3145Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4925105",
          "hgvs": "NM_201380.4:c.9434G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185510"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=441191[alleleid]",
        "alleleId": 441191,
        "preferredName": "NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/448080",
        "RCV": [
          "RCV000517970",
          "RCV000558676",
          "RCV000727764"
        ],
        "variationId": 448080
      }
    ]
  },
  "type": "amino-acid"
}