{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830472437",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 91,
          "referenceAllele": "C",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004887",
      "geneNCBI_id": 148738,
      "geneSymbol": "HJV",
      "hgvs": [
        "NP_973733.1:p.Cys91Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342135224",
          "hgvs": "NM_202004.4:c.272G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=682747[alleleid]",
        "alleleId": 682747,
        "preferredName": "NM_213653.4(HJV):c.950G>A (p.Cys317Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/694655",
        "RCV": [
          "RCV001366486",
          "RCV002470996",
          "RCV003493750"
        ],
        "variationId": 694655
      }
    ]
  },
  "type": "amino-acid"
}