{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645499335",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 56,
          "referenceAllele": "N",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004220",
      "geneNCBI_id": 8200,
      "geneSymbol": "GDF5",
      "hgvs": [
        "NP_000548.2:p.Asn56Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9832412",
          "hgvs": "NM_000557.5:c.168C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA408744899",
          "hgvs": "NM_000557.5:c.168C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147091"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=350938[alleleid]",
        "alleleId": 350938,
        "preferredName": "NM_000557.5(GDF5):c.168C>A (p.Asn56Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/338323",
        "RCV": [
          "RCV000269019",
          "RCV000276931",
          "RCV000307820",
          "RCV000369568",
          "RCV000365864",
          "RCV001865232",
          "RCV002523159"
        ],
        "variationId": 338323
      }
    ]
  },
  "type": "amino-acid"
}