{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830269940",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 63,
          "referenceAllele": "H",
          "start": 62
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004886",
      "geneNCBI_id": 3077,
      "geneSymbol": "HFE",
      "hgvs": [
        "NP_620573.1:p.His63Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA113797",
          "hgvs": "NM_139004.3:c.187C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181457"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15049[alleleid]",
        "alleleId": 15049,
        "preferredName": "NM_000410.4(HFE):c.187C>G (p.His63Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10",
        "RCV": [
          "RCV000000026",
          "RCV000175607",
          "RCV000394716",
          "RCV000763144",
          "RCV000991133",
          "RCV000844708",
          "RCV001248831",
          "RCV001731265",
          "RCV002227011",
          "RCV002272003"
        ],
        "variationId": 10
      }
    ]
  },
  "type": "amino-acid"
}