{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104439",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 258,
          "referenceAllele": "R",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000130",
      "geneNCBI_id": 59,
      "geneSymbol": "ACTA2",
      "hgvs": [
        "NP_001135417.1:p.Arg258Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007017",
          "hgvs": "NM_001141945.2:c.772C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153249"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33317[alleleid]",
        "alleleId": 33317,
        "preferredName": "NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18278",
        "RCV": [
          "RCV000022436",
          "RCV000019940",
          "RCV000523600",
          "RCV002310630"
        ],
        "variationId": 18278
      }
    ]
  },
  "type": "amino-acid"
}