{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA095218",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 353,
          "referenceAllele": "P",
          "start": 352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_001035810.1:p.Pro353Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120986",
          "hgvs": "NM_001042351.2:c.1057C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150118"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25424[alleleid]",
        "alleleId": 25424,
        "preferredName": "NM_000402.4(G6PD):c.1147C>T (p.Pro383Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10385",
        "RCV": [
          "RCV000011115",
          "RCV002305433",
          "RCV003323355"
        ],
        "variationId": 10385
      }
    ]
  },
  "type": "amino-acid"
}