{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057316514",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 439,
          "referenceAllele": "R",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_001346945.1:p.Arg439His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10566040",
          "hgvs": "NM_001360016.2:c.1316G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3498779[alleleid]",
        "alleleId": 3498779,
        "preferredName": "NM_001360016.2(G6PD):c.1316G>A (p.Arg439His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3339512",
        "RCV": [
          "RCV004699748"
        ],
        "variationId": 3339512
      }
    ]
  },
  "type": "amino-acid"
}