{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916016766",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 543,
          "referenceAllele": "M",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NP_001274273.1:p.Met543Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413923414",
          "hgvs": "NM_001287344.2:c.1628T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163773"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=574241[alleleid]",
        "alleleId": 574241,
        "preferredName": "NM_000061.3(BTK):c.1526T>C (p.Met509Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/571649",
        "RCV": [
          "RCV000692851",
          "RCV003224377",
          "RCV004017718"
        ],
        "variationId": 571649
      }
    ]
  },
  "type": "amino-acid"
}