{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825309445",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 597,
          "referenceAllele": "S",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008031",
      "geneNCBI_id": 4914,
      "geneSymbol": "NTRK1",
      "hgvs": [
        "NP_001012331.1:p.Ser597Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1169498",
          "hgvs": "NM_001012331.2:c.1790C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148763"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=276643[alleleid]",
        "alleleId": 276643,
        "preferredName": "NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/292892",
        "RCV": [
          "RCV000366642",
          "RCV000708821",
          "RCV000591215",
          "RCV002411184"
        ],
        "variationId": 292892
      }
    ]
  },
  "type": "amino-acid"
}