{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645424900",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 490,
          "referenceAllele": "V",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NP_060420.2:p.Val490Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8813854",
          "hgvs": "NM_017950.4:c.1468G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175860"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=330404[alleleid]",
        "alleleId": 330404,
        "preferredName": "NM_017950.4(CCDC40):c.1468G>A (p.Val490Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/325731",
        "RCV": [
          "RCV000387606",
          "RCV001094521"
        ],
        "variationId": 325731
      }
    ]
  },
  "type": "amino-acid"
}