{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA121029",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 342,
          "referenceAllele": "L",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_001035810.1:p.Leu342Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA121028",
          "hgvs": "NM_001042351.2:c.1024C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150118"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25444[alleleid]",
        "alleleId": 25444,
        "preferredName": "NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10405",
        "RCV": [
          "RCV000011148",
          "RCV000079389",
          "RCV000991013",
          "RCV004526593",
          "RCV004540994"
        ],
        "variationId": 10405
      }
    ]
  },
  "type": "amino-acid"
}