{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916020384",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 147,
          "referenceAllele": "H",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011621",
      "geneNCBI_id": 6927,
      "geneSymbol": "HNF1A",
      "hgvs": [
        "NP_001293108.2:p.His147Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214304",
          "hgvs": "NM_001306179.2:c.441C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386960079",
          "hgvs": "NM_001306179.2:c.441C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709964"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45482[alleleid]",
        "alleleId": 45482,
        "preferredName": "NM_000545.8(HNF1A):c.441C>A (p.His147Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36821",
        "RCV": [
          "RCV000030502",
          "RCV002319431",
          "RCV002222008",
          "RCV003546460"
        ],
        "variationId": 36821
      }
    ]
  },
  "type": "amino-acid"
}