{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA245418",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 74,
          "referenceAllele": "A",
          "start": 73
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NP_075561.3:p.Ala74Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA245417",
          "hgvs": "NM_023073.4:c.221C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178083"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194498[alleleid]",
        "alleleId": 194498,
        "preferredName": "NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197337",
        "RCV": [
          "RCV000178339",
          "RCV001152760",
          "RCV004020121"
        ],
        "variationId": 197337
      }
    ]
  },
  "type": "amino-acid"
}