{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645479955",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 248,
          "referenceAllele": "P",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004189",
      "geneNCBI_id": 2639,
      "geneSymbol": "GCDH",
      "hgvs": [
        "NP_000150.1:p.Pro248Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16041971",
          "hgvs": "NM_000159.4:c.743C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146709"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358598[alleleid]",
        "alleleId": 358598,
        "preferredName": "NM_000159.4(GCDH):c.743C>T (p.Pro248Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370244",
        "RCV": [
          "RCV000411040",
          "RCV001556801"
        ],
        "variationId": 370244
      }
    ]
  },
  "type": "amino-acid"
}