{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA098440",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 121,
          "referenceAllele": "K",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002211",
      "geneNCBI_id": 1291,
      "geneSymbol": "COL6A1",
      "hgvs": [
        "NP_001839.2:p.Lys121Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221786",
          "hgvs": "NM_001848.3:c.362A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167732"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32212[alleleid]",
        "alleleId": 32212,
        "preferredName": "NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17173",
        "RCV": [
          "RCV000018713",
          "RCV000177135"
        ],
        "variationId": 17173
      }
    ]
  },
  "type": "amino-acid"
}