{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA185972",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1424,
          "referenceAllele": "P",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Pro1424Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA014918",
          "hgvs": "NM_000138.5:c.4270C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51525[alleleid]",
        "alleleId": 51525,
        "preferredName": "NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42355",
        "RCV": [
          "RCV000035194",
          "RCV000161118",
          "RCV000226865",
          "RCV000586163",
          "RCV000755199",
          "RCV000765222",
          "RCV000771903",
          "RCV001121321",
          "RCV001121322",
          "RCV001121323",
          "RCV001121324",
          "RCV001116398"
        ],
        "variationId": 42355
      }
    ]
  },
  "type": "amino-acid"
}