{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826742854",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 418,
          "referenceAllele": "G",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001133",
      "geneNCBI_id": 695,
      "geneSymbol": "BTK",
      "hgvs": [
        "NP_001274274.1:p.Gly418Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413919436",
          "hgvs": "NM_001287345.2:c.1252G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA413919441",
          "hgvs": "NM_001287345.2:c.1252G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163774"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=433384[alleleid]",
        "alleleId": 433384,
        "preferredName": "NM_000061.3(BTK):c.1780G>A (p.Gly594Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2901961[alleleid]",
        "alleleId": 2901961,
        "preferredName": "NM_000061.3(BTK):c.1780G>C (p.Gly594Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/439452",
        "RCV": [
          "RCV000507546",
          "RCV001857258",
          "RCV003150249"
        ],
        "variationId": 439452
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2737284",
        "RCV": [
          "RCV003513679"
        ],
        "variationId": 2737284
      }
    ]
  },
  "type": "amino-acid"
}