{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830281916",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 148,
          "referenceAllele": "R",
          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009330",
      "geneNCBI_id": 10084,
      "geneSymbol": "PQBP1",
      "hgvs": [
        "NP_652766.1:p.Arg148Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412891754",
          "hgvs": "NM_144495.3:c.442C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181601"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=966028[alleleid]",
        "alleleId": 966028,
        "preferredName": "NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/977914",
        "RCV": [
          "RCV001255844",
          "RCV003127736"
        ],
        "variationId": 977914
      }
    ]
  },
  "type": "amino-acid"
}