{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828292288",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 174,
          "referenceAllele": "R",
          "start": 173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002190",
      "geneNCBI_id": 1305,
      "geneSymbol": "COL13A1",
      "hgvs": [
        "NP_001355815.1:p.Arg174Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5534631",
          "hgvs": "NM_001368886.1:c.521G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708758"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2052982[alleleid]",
        "alleleId": 2052982,
        "preferredName": "NM_001368882.1(COL13A1):c.1184G>A (p.Arg395Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1994616",
        "RCV": [
          "RCV002791266"
        ],
        "variationId": 1994616
      }
    ]
  },
  "type": "amino-acid"
}