{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580158992",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 411,
          "referenceAllele": "F",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008654",
      "geneNCBI_id": 5096,
      "geneSymbol": "PCCB",
      "hgvs": [
        "NP_001171485.1:p.Phe411Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA354648769",
          "hgvs": "NM_001178014.2:c.1232T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156273"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2121222[alleleid]",
        "alleleId": 2121222,
        "preferredName": "NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2063366",
        "RCV": [
          "RCV002948401"
        ],
        "variationId": 2063366
      }
    ]
  },
  "type": "amino-acid"
}