{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827732119",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 267,
          "referenceAllele": "Q",
          "start": 266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NP_001340532.1:p.Gln267Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7266681",
          "hgvs": "NM_001353603.2:c.800A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625421"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1489885[alleleid]",
        "alleleId": 1489885,
        "preferredName": "NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1418289",
        "RCV": [
          "RCV001952041",
          "RCV003314708"
        ],
        "variationId": 1418289
      }
    ]
  },
  "type": "amino-acid"
}