{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139668367",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 602,
          "referenceAllele": "R",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009023",
      "geneNCBI_id": 5317,
      "geneSymbol": "PKP1",
      "hgvs": [
        "NP_000290.2:p.Arg602His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1324593",
          "hgvs": "NM_000299.4:c.1805G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146845"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=863282[alleleid]",
        "alleleId": 863282,
        "preferredName": "NM_001005337.3(PKP1):c.1742G>A (p.Arg581His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/875971",
        "RCV": [
          "RCV001100300",
          "RCV002554963",
          "RCV004032063"
        ],
        "variationId": 875971
      }
    ]
  },
  "type": "amino-acid"
}