{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826327237",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "referenceAllele": "P",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026090",
      "geneNCBI_id": 55036,
      "geneSymbol": "CCDC40",
      "hgvs": [
        "NP_001230271.1:p.Pro751Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8814156",
          "hgvs": "NM_001243342.2:c.2251C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158953"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=256498[alleleid]",
        "alleleId": 256498,
        "preferredName": "NM_017950.4(CCDC40):c.2251C>A (p.Pro751Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/260958",
        "RCV": [
          "RCV000243481",
          "RCV000370474",
          "RCV001094509"
        ],
        "variationId": 260958
      }
    ]
  },
  "type": "amino-acid"
}