{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139742152",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 729,
          "referenceAllele": "Q",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008927",
      "geneNCBI_id": 5257,
      "geneSymbol": "PHKB",
      "hgvs": [
        "NP_001350766.1:p.Gln729Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8041086",
          "hgvs": "NM_001363837.1:c.2186A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625831"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=875332[alleleid]",
        "alleleId": 875332,
        "preferredName": "NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/885844",
        "RCV": [
          "RCV001117679"
        ],
        "variationId": 885844
      }
    ]
  },
  "type": "amino-acid"
}