{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828057966",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 198,
          "referenceAllele": "R",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_001346945.1:p.Arg198Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA415237855",
          "hgvs": "NM_001360016.2:c.592C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1780247[alleleid]",
        "alleleId": 1780247,
        "preferredName": "NM_001360016.2(G6PD):c.592C>A (p.Arg198Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1722743",
        "RCV": [
          "RCV002305853"
        ],
        "variationId": 1722743
      }
    ]
  },
  "type": "amino-acid"
}