{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829205948",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 255,
          "referenceAllele": "Q",
          "start": 254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NP_001380509.1:p.Gln255His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA352002730",
          "hgvs": "NM_001393580.1:c.765G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA352002733",
          "hgvs": "NM_001393580.1:c.765G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733395"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=543192[alleleid]",
        "alleleId": 543192,
        "preferredName": "NM_000404.4(GLB1):c.765G>C (p.Gln255His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3098176[alleleid]",
        "alleleId": 3098176,
        "preferredName": "NM_000404.4(GLB1):c.765G>T (p.Gln255His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/554850",
        "RCV": [
          "RCV000670551",
          "RCV003767987"
        ],
        "variationId": 554850
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2946183",
        "RCV": [
          "RCV003806469"
        ],
        "variationId": 2946183
      }
    ]
  },
  "type": "amino-acid"
}