{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA239662",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 486,
          "referenceAllele": "D",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025801",
      "geneNCBI_id": 65250,
      "geneSymbol": "CPLANE1",
      "hgvs": [
        "NP_075561.3:p.Asp486Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA239661",
          "hgvs": "NM_023073.4:c.1456G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178083"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191091[alleleid]",
        "alleleId": 191091,
        "preferredName": "NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193928",
        "RCV": [
          "RCV000325656",
          "RCV000724006",
          "RCV001193382"
        ],
        "variationId": 193928
      }
    ]
  },
  "type": "amino-acid"
}