{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828548480",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003647",
      "geneNCBI_id": 2235,
      "geneSymbol": "FECH",
      "hgvs": [
        "NP_001361707.1:p.Cys391Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA006500",
          "hgvs": "NM_001374778.1:c.1171T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709952"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38381[alleleid]",
        "alleleId": 38381,
        "preferredName": "NM_000140.5(FECH):c.1231T>G (p.Cys411Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242756",
        "RCV": [
          "RCV001857788"
        ],
        "variationId": 242756
      }
    ]
  },
  "type": "amino-acid"
}