{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828058142",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 393,
          "referenceAllele": "R",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_001346945.1:p.Arg393His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120959",
          "hgvs": "NM_001360016.2:c.1178G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25409[alleleid]",
        "alleleId": 25409,
        "preferredName": "NM_000402.4(G6PD):c.1268G>A (p.Arg423His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10370",
        "RCV": [
          "RCV000011090",
          "RCV000030890",
          "RCV000030891",
          "RCV000066231",
          "RCV000756196",
          "RCV003480028"
        ],
        "variationId": 10370
      }
    ]
  },
  "type": "amino-acid"
}