{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA304383",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 2130,
          "referenceAllele": "E",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Glu2130Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016399",
          "hgvs": "NM_000138.5:c.6388G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197650[alleleid]",
        "alleleId": 197650,
        "preferredName": "NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/200191",
        "RCV": [
          "RCV000181698",
          "RCV000768213",
          "RCV000824568",
          "RCV000659564",
          "RCV001170531",
          "RCV002287382",
          "RCV004528957"
        ],
        "variationId": 200191
      }
    ]
  },
  "type": "amino-acid"
}