{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA131171",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1141,
          "referenceAllele": "P",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Pro1141Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA014098",
          "hgvs": "NM_000138.5:c.3422C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51504[alleleid]",
        "alleleId": 51504,
        "preferredName": "NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42334",
        "RCV": [
          "RCV000035170",
          "RCV000228084",
          "RCV000266428",
          "RCV000251557",
          "RCV000279248",
          "RCV000292691",
          "RCV000375425",
          "RCV000377620",
          "RCV000337118",
          "RCV001703450",
          "RCV001775003"
        ],
        "variationId": 42334
      }
    ]
  },
  "type": "amino-acid"
}