{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830507161",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 3348,
          "referenceAllele": "R",
          "start": 3347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958786.1:p.Arg3348Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4924775",
          "hgvs": "NM_201384.3:c.10043G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185514"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=458279[alleleid]",
        "alleleId": 458279,
        "preferredName": "NM_201384.3(PLEC):c.10043G>A (p.Arg3348Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/487327",
        "RCV": [
          "RCV000576198",
          "RCV003133382"
        ],
        "variationId": 487327
      }
    ]
  },
  "type": "amino-acid"
}