{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA240602",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 875,
          "referenceAllele": "S",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NP_075561.3:p.Ser875Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA240601",
          "hgvs": "NM_023073.4:c.2624C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178083"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191724[alleleid]",
        "alleleId": 191724,
        "preferredName": "NM_001384732.1(CPLANE1):c.2624C>T (p.Ser875Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194561",
        "RCV": [
          "RCV000174951",
          "RCV000611123"
        ],
        "variationId": 194561
      }
    ]
  },
  "type": "amino-acid"
}