{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA113220",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 154,
          "referenceAllele": "R",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021197",
      "geneNCBI_id": 79152,
      "geneSymbol": "FA2H",
      "hgvs": [
        "NP_077282.3:p.Arg154Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA259930",
          "hgvs": "NM_024306.5:c.460C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178243"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39829[alleleid]",
        "alleleId": 39829,
        "preferredName": "NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30872",
        "RCV": [
          "RCV000023857",
          "RCV000483483",
          "RCV003317044",
          "RCV002513207"
        ],
        "variationId": 30872
      }
    ]
  },
  "type": "amino-acid"
}