{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645465940",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 574,
          "referenceAllele": "P",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NP_079375.3:p.Pro574Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8372273",
          "hgvs": "NM_025099.6:c.1720C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178724"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=402638[alleleid]",
        "alleleId": 402638,
        "preferredName": "NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/412531",
        "RCV": [
          "RCV000469334",
          "RCV000500603",
          "RCV001807256",
          "RCV001551204",
          "RCV003418207"
        ],
        "variationId": 412531
      }
    ]
  },
  "type": "amino-acid"
}