{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA321732",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 449,
          "referenceAllele": "R",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002209",
      "geneNCBI_id": 1289,
      "geneSymbol": "COL5A1",
      "hgvs": [
        "NP_001265003.1:p.Arg449Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA321730",
          "hgvs": "NM_001278074.1:c.1345C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS161525"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210005[alleleid]",
        "alleleId": 210005,
        "preferredName": "NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/213023",
        "RCV": [
          "RCV000197283",
          "RCV002229072",
          "RCV002381664",
          "RCV002277489"
        ],
        "variationId": 213023
      }
    ]
  },
  "type": "amino-acid"
}