{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139671509",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 572,
          "referenceAllele": "H",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NP_001073272.1:p.His572Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8815438",
          "hgvs": "NM_001079804.3:c.1716C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401369055",
          "hgvs": "NM_001079804.3:c.1716C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150561"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=917277[alleleid]",
        "alleleId": 917277,
        "preferredName": "NM_000152.5(GAA):c.1716C>G (p.His572Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/929167",
        "RCV": [
          "RCV001194239",
          "RCV003145370"
        ],
        "variationId": 929167
      }
    ]
  },
  "type": "amino-acid"
}