{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA107553",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 100,
          "referenceAllele": "S",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004845",
      "geneNCBI_id": 348980,
      "geneSymbol": "HCN1",
      "hgvs": [
        "NP_066550.2:p.Ser100Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA163272",
          "hgvs": "NM_021072.4:c.299C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=143202[alleleid]",
        "alleleId": 143202,
        "preferredName": "NM_021072.4(HCN1):c.299C>T (p.Ser100Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/139572",
        "RCV": [
          "RCV000128459",
          "RCV001054783",
          "RCV003448268"
        ],
        "variationId": 139572
      }
    ]
  },
  "type": "amino-acid"
}