{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645406032",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 2193,
          "referenceAllele": "E",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Glu2193Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA057010",
          "hgvs": "NM_000138.5:c.6577G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=255255[alleleid]",
        "alleleId": 255255,
        "preferredName": "NM_000138.5(FBN1):c.6577G>A (p.Glu2193Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/255306",
        "RCV": [
          "RCV000245988",
          "RCV000631925",
          "RCV000663879",
          "RCV001118927",
          "RCV001118923",
          "RCV001118924",
          "RCV001118925",
          "RCV001118926",
          "RCV001561438"
        ],
        "variationId": 255306
      }
    ]
  },
  "type": "amino-acid"
}