{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573189252",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4131,
          "referenceAllele": "R",
          "start": 4130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014539",
      "geneNCBI_id": 57674,
      "geneSymbol": "RNF213",
      "hgvs": [
        "NP_001243000.2:p.Arg4131Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8822169",
          "hgvs": "NM_001256071.3:c.12391C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159543"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1678139[alleleid]",
        "alleleId": 1678139,
        "preferredName": "NM_001256071.3(RNF213):c.12391C>T (p.Arg4131Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1686128",
        "RCV": [
          "RCV002250295"
        ],
        "variationId": 1686128
      }
    ]
  },
  "type": "amino-acid"
}