{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658661338",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 2506,
          "referenceAllele": "G",
          "start": 2505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Gly2506Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA058726",
          "hgvs": "NM_000138.5:c.7516G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=464856[alleleid]",
        "alleleId": 464856,
        "preferredName": "NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/457262",
        "RCV": [
          "RCV000560345",
          "RCV001120206",
          "RCV001120208",
          "RCV001120204",
          "RCV001120209",
          "RCV001120210",
          "RCV001120205",
          "RCV001120207"
        ],
        "variationId": 457262
      }
    ]
  },
  "type": "amino-acid"
}