{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057522288",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 131,
          "referenceAllele": "G",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_001346945.1:p.Gly131Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10566251",
          "hgvs": "NM_001360016.2:c.392G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3849475[alleleid]",
        "alleleId": 3849475,
        "preferredName": "NM_001360016.2(G6PD):c.392G>A (p.Gly131Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3718361",
        "RCV": [
          "RCV005197656"
        ],
        "variationId": 3718361
      }
    ]
  },
  "type": "amino-acid"
}