{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645405071",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1366,
          "referenceAllele": "E",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Glu1366Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA052073",
          "hgvs": "NM_000138.5:c.4096G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=258875[alleleid]",
        "alleleId": 258875,
        "preferredName": "NM_000138.5(FBN1):c.4096G>C (p.Glu1366Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/263872",
        "RCV": [
          "RCV002310878",
          "RCV002518700"
        ],
        "variationId": 263872
      }
    ]
  },
  "type": "amino-acid"
}