{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111236",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 39,
          "referenceAllele": "H",
          "start": 38
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NP_000301.1:p.His39Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA263468",
          "hgvs": "NM_000310.4:c.117T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA339850666",
          "hgvs": "NM_000310.4:c.117T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146856"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70814[alleleid]",
        "alleleId": 70814,
        "preferredName": "NM_000310.4(PPT1):c.117T>A (p.His39Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56175",
        "RCV": [
          "RCV000049586"
        ],
        "variationId": 56175
      }
    ]
  },
  "type": "amino-acid"
}