{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830270679",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 48,
          "referenceAllele": "R",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NP_620578.1:p.Arg48Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3666613",
          "hgvs": "NM_139009.3:c.143G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181461"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=443940[alleleid]",
        "alleleId": 443940,
        "preferredName": "NM_000410.4(HFE):c.212G>A (p.Arg71Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/452680",
        "RCV": [
          "RCV000519340"
        ],
        "variationId": 452680
      }
    ]
  },
  "type": "amino-acid"
}