{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA278495",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 296,
          "referenceAllele": "Y",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NP_000024.2:p.Tyr296His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278494",
          "hgvs": "NM_000033.4:c.886T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190200[alleleid]",
        "alleleId": 190200,
        "preferredName": "NM_000033.4(ABCD1):c.886T>C (p.Tyr296His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193035",
        "RCV": [
          "RCV000173053"
        ],
        "variationId": 193035
      }
    ]
  },
  "type": "amino-acid"
}