{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573070177",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 578,
          "referenceAllele": "R",
          "start": 577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NP_001303969.2:p.Arg578Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2299352",
          "hgvs": "NM_001317040.2:c.1732C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733918"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=443416[alleleid]",
        "alleleId": 443416,
        "preferredName": "NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/450616",
        "RCV": [
          "RCV000522107",
          "RCV000765726",
          "RCV001079383",
          "RCV004537876"
        ],
        "variationId": 450616
      }
    ]
  },
  "type": "amino-acid"
}