{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827151558",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 415,
          "referenceAllele": "R",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006192",
      "geneNCBI_id": 3717,
      "geneSymbol": "JAK2",
      "hgvs": [
        "NP_001309133.1:p.Arg415Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA372826041",
          "hgvs": "NM_001322204.2:c.1244G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660126"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1868198[alleleid]",
        "alleleId": 1868198,
        "preferredName": "NM_004972.4(JAK2):c.1691G>A (p.Arg564Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2136730",
        "RCV": [
          "RCV003062194"
        ],
        "variationId": 2136730
      }
    ]
  },
  "type": "amino-acid"
}