{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA105050",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 127,
          "referenceAllele": "Q",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NP_000401.1:p.Gln127His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280945",
          "hgvs": "NM_000410.4:c.381A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA363206484",
          "hgvs": "NM_000410.4:c.381A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146953"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15056[alleleid]",
        "alleleId": 15056,
        "preferredName": "NM_000410.4(HFE):c.381A>C (p.Gln127His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17",
        "RCV": [
          "RCV000000034"
        ],
        "variationId": 17
      }
    ]
  },
  "type": "amino-acid"
}