{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830270931",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 103,
          "referenceAllele": "Q",
          "start": 102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NP_620579.1:p.Gln103Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280949",
          "hgvs": "NM_139010.3:c.308A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181462"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15058[alleleid]",
        "alleleId": 15058,
        "preferredName": "NM_000410.4(HFE):c.848A>C (p.Gln283Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/19",
        "RCV": [
          "RCV000000036",
          "RCV001050090",
          "RCV003884332"
        ],
        "variationId": 19
      }
    ]
  },
  "type": "amino-acid"
}