{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916024256",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "NP_001306067.1:p.Cys400Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119563",
          "hgvs": "NM_001319138.2:c.1199G>A"
        }
      ]
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23418[alleleid]",
        "alleleId": 23418,
        "preferredName": "NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8379",
        "RCV": [
          "RCV000008885",
          "RCV003137503"
        ],
        "variationId": 8379
      }
    ]
  },
  "type": "amino-acid"
}