{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645404226",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 626,
          "referenceAllele": "G",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Gly626Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10587855",
          "hgvs": "NM_000138.5:c.1876G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392339125",
          "hgvs": "NM_000138.5:c.1876G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA916082406",
          "hgvs": "NM_000138.5:c.1875_1876delinsCA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=258912[alleleid]",
        "alleleId": 258912,
        "preferredName": "NM_000138.5(FBN1):c.1876G>A (p.Gly626Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=842515[alleleid]",
        "alleleId": 842515,
        "preferredName": "NM_000138.5(FBN1):c.1875_1876inv (p.Gly626Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/263953",
        "RCV": [
          "RCV002310926"
        ],
        "variationId": 263953
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/836639",
        "RCV": [
          "RCV001037815"
        ],
        "variationId": 836639
      }
    ]
  },
  "type": "amino-acid"
}