{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA130464",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 4810,
          "referenceAllele": "R",
          "start": 4809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014539",
      "geneNCBI_id": 57674,
      "geneSymbol": "RNF213",
      "hgvs": [
        "NP_001243000.2:p.Arg4810Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130463",
          "hgvs": "NM_001256071.3:c.14429G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159543"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48299[alleleid]",
        "alleleId": 48299,
        "preferredName": "NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39700",
        "RCV": [
          "RCV000032902",
          "RCV001531872"
        ],
        "variationId": 39700
      }
    ]
  },
  "type": "amino-acid"
}