{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741826000",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "referenceAllele": "I",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NP_001020115.1:p.Ile225Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4277097",
          "hgvs": "NM_001024944.2:c.674T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149290"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2971238[alleleid]",
        "alleleId": 2971238,
        "preferredName": "NM_000048.4(ASL):c.674T>C (p.Ile225Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2806306",
        "RCV": [
          "RCV003604104"
        ],
        "variationId": 2806306
      }
    ]
  },
  "type": "amino-acid"
}