{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658661253",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 2273,
          "referenceAllele": "M",
          "start": 2272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Met2273Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA057444",
          "hgvs": "NM_000138.5:c.6819G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392332251",
          "hgvs": "NM_000138.5:c.6819G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392332258",
          "hgvs": "NM_000138.5:c.6819G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=445345[alleleid]",
        "alleleId": 445345,
        "preferredName": "NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/450683",
        "RCV": [
          "RCV000522487",
          "RCV000632028",
          "RCV000680520",
          "RCV001188647",
          "RCV003226317"
        ],
        "variationId": 450683
      }
    ]
  },
  "type": "amino-acid"
}