{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825793878",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 51,
          "referenceAllele": "I",
          "start": 50
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NP_001129074.2:p.Ile51Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114634",
          "hgvs": "NM_001135602.3:c.152T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733773"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15965[alleleid]",
        "alleleId": 15965,
        "preferredName": "NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/926",
        "RCV": [
          "RCV000000974",
          "RCV000671053",
          "RCV001582457",
          "RCV001851520"
        ],
        "variationId": 926
      }
    ]
  },
  "type": "amino-acid"
}