{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916016757",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 515,
          "referenceAllele": "C",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NP_001274273.1:p.Cys515Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602658",
          "hgvs": "NM_001287344.2:c.1544G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA16602659",
          "hgvs": "NM_001287344.2:c.1543T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA645605194",
          "hgvs": "NM_001287344.2:c.1544_1545delinsCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163773"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363082[alleleid]",
        "alleleId": 363082,
        "preferredName": "NM_000061.3(BTK):c.1442G>C (p.Cys481Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363083[alleleid]",
        "alleleId": 363083,
        "preferredName": "NM_000061.3(BTK):c.1441T>A (p.Cys481Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376203",
        "RCV": [
          "RCV000430045",
          "RCV000781188",
          "RCV001243610",
          "RCV001269707",
          "RCV003318375"
        ],
        "variationId": 376203
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376204",
        "RCV": [
          "RCV000420001",
          "RCV000437223",
          "RCV001243609",
          "RCV001269602"
        ],
        "variationId": 376204
      }
    ]
  },
  "type": "amino-acid"
}