{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830150825",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 2800,
          "referenceAllele": "K",
          "start": 2799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NP_476508.2:p.Lys2800Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2187381",
          "hgvs": "NM_057167.4:c.8399A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180580"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269718[alleleid]",
        "alleleId": 269718,
        "preferredName": "NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285481",
        "RCV": [
          "RCV000293957",
          "RCV000551776",
          "RCV000318494",
          "RCV004547699"
        ],
        "variationId": 285481
      }
    ]
  },
  "type": "amino-acid"
}