{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573070108",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 256,
          "referenceAllele": "R",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NP_001303969.2:p.Arg256Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114654",
          "hgvs": "NM_001317040.2:c.766C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733918"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15978[alleleid]",
        "alleleId": 15978,
        "preferredName": "NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/939",
        "RCV": [
          "RCV000000988",
          "RCV000179306",
          "RCV000586182",
          "RCV000633470",
          "RCV000984269",
          "RCV000984270",
          "RCV000984271",
          "RCV002512629"
        ],
        "variationId": 939
      }
    ]
  },
  "type": "amino-acid"
}