{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828827298",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80,
          "referenceAllele": "C",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NP_001366281.1:p.Cys80Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA338317",
          "hgvs": "NM_001379352.1:c.238T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739015"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212074[alleleid]",
        "alleleId": 212074,
        "preferredName": "NM_213653.4(HJV):c.238T>G (p.Cys80Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216012",
        "RCV": [
          "RCV001377304"
        ],
        "variationId": 216012
      }
    ]
  },
  "type": "amino-acid"
}