{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA354216",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 168,
          "referenceAllele": "E",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NP_000401.1:p.Glu168Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA354214",
          "hgvs": "NM_000410.4:c.502G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146953"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224315[alleleid]",
        "alleleId": 224315,
        "preferredName": "NM_000410.4(HFE):c.502G>C (p.Glu168Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222651",
        "RCV": [
          "RCV000208047",
          "RCV000557367",
          "RCV000998548",
          "RCV002485360"
        ],
        "variationId": 222651
      }
    ]
  },
  "type": "amino-acid"
}