{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA131223",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 2234,
          "referenceAllele": "V",
          "start": 2233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Val2234Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA016669",
          "hgvs": "NM_000138.5:c.6700G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44768[alleleid]",
        "alleleId": 44768,
        "preferredName": "NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36104",
        "RCV": [
          "RCV000029766",
          "RCV000035252",
          "RCV000273547",
          "RCV000310000",
          "RCV000270709",
          "RCV000659568",
          "RCV000726908",
          "RCV000769627",
          "RCV001081774",
          "RCV004532415"
        ],
        "variationId": 36104
      }
    ]
  },
  "type": "amino-acid"
}