{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499232210",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 365,
          "referenceAllele": "A",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_000393.4:p.Ala365Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA415234445",
          "hgvs": "NM_000402.4:c.1094C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146945"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1056748[alleleid]",
        "alleleId": 1056748,
        "preferredName": "NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1068217",
        "RCV": [
          "RCV001379702",
          "RCV003469642"
        ],
        "variationId": 1068217
      }
    ]
  },
  "type": "amino-acid"
}