{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916061628",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1016,
          "referenceAllele": "M",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025523",
      "geneNCBI_id": 55704,
      "geneSymbol": "CCDC88A",
      "hgvs": [
        "NP_060554.3:p.Met1016Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1665852",
          "hgvs": "NM_018084.5:c.3047T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175963"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=493472[alleleid]",
        "alleleId": 493472,
        "preferredName": "NM_001365480.1(CCDC88A):c.3047T>C (p.Met1016Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/502048",
        "RCV": [
          "RCV000591724",
          "RCV004024838"
        ],
        "variationId": 502048
      }
    ]
  },
  "type": "amino-acid"
}