{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830059477",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 54,
          "referenceAllele": "E",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021708",
      "geneNCBI_id": 83605,
      "geneSymbol": "CCM2",
      "hgvs": [
        "NP_113631.1:p.Glu54Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4246883",
          "hgvs": "NM_031443.4:c.160G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179162"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1044963[alleleid]",
        "alleleId": 1044963,
        "preferredName": "NM_031443.4(CCM2):c.160G>A (p.Glu54Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1054801",
        "RCV": [
          "RCV001363376",
          "RCV003246944"
        ],
        "variationId": 1054801
      }
    ]
  },
  "type": "amino-acid"
}