{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117312",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 553,
          "referenceAllele": "D",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016882",
      "geneNCBI_id": 10021,
      "geneSymbol": "HCN4",
      "hgvs": [
        "NP_005468.1:p.Asp553Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117311",
          "hgvs": "NM_005477.3:c.1657G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171105"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20214[alleleid]",
        "alleleId": 20214,
        "preferredName": "NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5175",
        "RCV": [
          "RCV000005483",
          "RCV001851666"
        ],
        "variationId": 5175
      }
    ]
  },
  "type": "amino-acid"
}