{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA303978",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 978,
          "referenceAllele": "D",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Asp978Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA013568",
          "hgvs": "NM_000138.5:c.2934C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392329662",
          "hgvs": "NM_000138.5:c.2934C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197743[alleleid]",
        "alleleId": 197743,
        "preferredName": "NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199947",
        "RCV": [
          "RCV000659521",
          "RCV001088772",
          "RCV001183737",
          "RCV001721134",
          "RCV004537522"
        ],
        "variationId": 199947
      }
    ]
  },
  "type": "amino-acid"
}