{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099057",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 486,
          "referenceAllele": "D",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011784",
      "geneNCBI_id": 7056,
      "geneSymbol": "THBD",
      "hgvs": [
        "NP_000352.1:p.Asp486Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA122642",
          "hgvs": "NM_000361.3:c.1456G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146905"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27753[alleleid]",
        "alleleId": 27753,
        "preferredName": "NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12714",
        "RCV": [
          "RCV000013551",
          "RCV000263795",
          "RCV000949435",
          "RCV001818153",
          "RCV002293979",
          "RCV003924830"
        ],
        "variationId": 12714
      }
    ]
  },
  "type": "amino-acid"
}