{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827847010",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "referenceAllele": "D",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003688",
      "geneNCBI_id": 2260,
      "geneSymbol": "FGFR1",
      "hgvs": [
        "NP_001341296.1:p.Asp129Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4718764",
          "hgvs": "NM_001354367.2:c.386A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618016"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=444277[alleleid]",
        "alleleId": 444277,
        "preferredName": "NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/449298",
        "RCV": [
          "RCV000521203",
          "RCV002060267",
          "RCV004537871"
        ],
        "variationId": 449298
      }
    ]
  },
  "type": "amino-acid"
}