{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830270984",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 150,
          "referenceAllele": "R",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NP_620579.1:p.Arg150Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA280947",
          "hgvs": "NM_139010.3:c.449G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181462"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15057[alleleid]",
        "alleleId": 15057,
        "preferredName": "NM_000410.4(HFE):c.989G>T (p.Arg330Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18",
        "RCV": [
          "RCV000000035"
        ],
        "variationId": 18
      }
    ]
  },
  "type": "amino-acid"
}