{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826327257",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 796,
          "referenceAllele": "A",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NP_001230271.1:p.Ala796Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8814184",
          "hgvs": "NM_001243342.2:c.2387C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158953"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=330416[alleleid]",
        "alleleId": 330416,
        "preferredName": "NM_017950.4(CCDC40):c.2387C>G (p.Ala796Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/325742",
        "RCV": [
          "RCV000372636",
          "RCV001094514",
          "RCV003969926"
        ],
        "variationId": 325742
      }
    ]
  },
  "type": "amino-acid"
}