{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA295219",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 2414,
          "referenceAllele": "R",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Arg2414Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA017125",
          "hgvs": "NM_000138.5:c.7241G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=171177[alleleid]",
        "alleleId": 171177,
        "preferredName": "NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/161234",
        "RCV": [
          "RCV000148488",
          "RCV000530970",
          "RCV000995333",
          "RCV001117026",
          "RCV001117027",
          "RCV001115601",
          "RCV001115603",
          "RCV001115602",
          "RCV002483288"
        ],
        "variationId": 161234
      }
    ]
  },
  "type": "amino-acid"
}