{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915984595",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 553,
          "referenceAllele": "F",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004855",
      "geneNCBI_id": 3067,
      "geneSymbol": "HDC",
      "hgvs": [
        "NP_002103.2:p.Phe553Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7554520",
          "hgvs": "NM_002112.4:c.1657T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392377346",
          "hgvs": "NM_002112.4:c.1659T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA392377347",
          "hgvs": "NM_002112.4:c.1659T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167988"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=703239[alleleid]",
        "alleleId": 703239,
        "preferredName": "NM_002112.4(HDC):c.1657T>C (p.Phe553Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/776888",
        "RCV": [
          "RCV000957275"
        ],
        "variationId": 776888
      }
    ]
  },
  "type": "amino-acid"
}