{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA121003",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 228,
          "referenceAllele": "R",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_000393.4:p.Arg228Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121002",
          "hgvs": "NM_000402.4:c.683G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146945"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25433[alleleid]",
        "alleleId": 25433,
        "preferredName": "NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10394",
        "RCV": [
          "RCV000011129",
          "RCV000011130"
        ],
        "variationId": 10394
      }
    ]
  },
  "type": "amino-acid"
}