{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916013507",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 464,
          "referenceAllele": "R",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004795",
      "geneNCBI_id": 9563,
      "geneSymbol": "H6PD",
      "hgvs": [
        "NP_001269516.1:p.Arg464Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126206",
          "hgvs": "NM_001282587.2:c.1391G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162536"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31170[alleleid]",
        "alleleId": 31170,
        "preferredName": "NM_004285.4(H6PD):c.1358G>A (p.Arg453Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16131",
        "RCV": [
          "RCV000017511",
          "RCV001636602"
        ],
        "variationId": 16131
      }
    ]
  },
  "type": "amino-acid"
}