{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825338809",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 230,
          "referenceAllele": "M",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000746",
      "geneNCBI_id": 435,
      "geneSymbol": "ASL",
      "hgvs": [
        "NP_001020117.1:p.Met230Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4277127",
          "hgvs": "NM_001024946.2:c.689T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149291"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2122201[alleleid]",
        "alleleId": 2122201,
        "preferredName": "NM_000048.4(ASL):c.767T>C (p.Met256Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2066939",
        "RCV": [
          "RCV002943663",
          "RCV003388135"
        ],
        "variationId": 2066939
      }
    ]
  },
  "type": "amino-acid"
}