{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA095161",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 323,
          "referenceAllele": "L",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NP_001035810.1:p.Leu323Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120992",
          "hgvs": "NM_001042351.2:c.968T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2499306188",
          "hgvs": "NM_001042351.2:c.[968T>C;376A>G]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150118"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25427[alleleid]",
        "alleleId": 25427,
        "preferredName": "NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10388",
        "RCV": [
          "RCV000011119",
          "RCV000757319",
          "RCV000818410",
          "RCV003460453",
          "RCV003934822"
        ],
        "variationId": 10388
      }
    ]
  },
  "type": "amino-acid"
}