{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645425288",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 990,
          "referenceAllele": "D",
          "start": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NP_060420.2:p.Asp990Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8814566",
          "hgvs": "NM_017950.4:c.2968G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175860"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272779[alleleid]",
        "alleleId": 272779,
        "preferredName": "NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288542",
        "RCV": [
          "RCV000397708",
          "RCV001082104",
          "RCV001122308",
          "RCV003977801"
        ],
        "variationId": 288542
      }
    ]
  },
  "type": "amino-acid"
}