{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828058066",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 317,
          "referenceAllele": "E",
          "start": 316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_001346945.1:p.Glu317Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121019",
          "hgvs": "NM_001360016.2:c.949G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25440[alleleid]",
        "alleleId": 25440,
        "preferredName": "NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10401",
        "RCV": [
          "RCV000011144",
          "RCV000011142",
          "RCV000011143",
          "RCV001563664",
          "RCV000800624",
          "RCV001815167",
          "RCV003225020",
          "RCV003466849"
        ],
        "variationId": 10401
      }
    ]
  },
  "type": "amino-acid"
}