{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830499447",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 520,
          "referenceAllele": "E",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958785.1:p.Glu520Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4927928",
          "hgvs": "NM_201383.3:c.1558G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185513"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=493212[alleleid]",
        "alleleId": 493212,
        "preferredName": "NM_201384.3(PLEC):c.1546G>A (p.Glu516Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/501788",
        "RCV": [
          "RCV000591157",
          "RCV002062088"
        ],
        "variationId": 501788
      }
    ]
  },
  "type": "amino-acid"
}