{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828057978",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 213,
          "referenceAllele": "V",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_001346945.1:p.Val213Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120984",
          "hgvs": "NM_001360016.2:c.637G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10566205",
          "hgvs": "NM_001360016.2:c.637G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25422[alleleid]",
        "alleleId": 25422,
        "preferredName": "NM_000402.4(G6PD):c.727G>T (p.Val243Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10383",
        "RCV": [
          "RCV000011111",
          "RCV000011112",
          "RCV000011110",
          "RCV000066251",
          "RCV000790819",
          "RCV002287328"
        ],
        "variationId": 10383
      }
    ]
  },
  "type": "amino-acid"
}