{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA121058",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 198,
          "referenceAllele": "R",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_001035810.1:p.Arg198His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121057",
          "hgvs": "NM_001042351.2:c.593G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150118"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25456[alleleid]",
        "alleleId": 25456,
        "preferredName": "NM_000402.4(G6PD):c.683G>A (p.Arg228His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10417",
        "RCV": [
          "RCV000011161",
          "RCV000991014"
        ],
        "variationId": 10417
      }
    ]
  },
  "type": "amino-acid"
}