{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573070104",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 249,
          "referenceAllele": "R",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004298",
      "geneNCBI_id": 2720,
      "geneSymbol": "GLB1",
      "hgvs": [
        "NP_001303969.2:p.Arg249His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA203223",
          "hgvs": "NM_001317040.2:c.746G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733918"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195238[alleleid]",
        "alleleId": 195238,
        "preferredName": "NM_000404.4(GLB1):c.602G>A (p.Arg201His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198077",
        "RCV": [
          "RCV000255006",
          "RCV000309607",
          "RCV000665698",
          "RCV000818052",
          "RCV000995553",
          "RCV002500509",
          "RCV002286710"
        ],
        "variationId": 198077
      }
    ]
  },
  "type": "amino-acid"
}