{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830493307",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 3345,
          "referenceAllele": "R",
          "start": 3344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958783.1:p.Arg3345Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4924742",
          "hgvs": "NM_201381.3:c.10034G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185511"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=457884[alleleid]",
        "alleleId": 457884,
        "preferredName": "NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/478626",
        "RCV": [
          "RCV000525646",
          "RCV000585576",
          "RCV000610926"
        ],
        "variationId": 478626
      }
    ]
  },
  "type": "amino-acid"
}