{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499229612",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 367,
          "referenceAllele": "T",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NP_000193.1:p.Thr367Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10537502",
          "hgvs": "NM_000202.8:c.1100C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146752"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1086312[alleleid]",
        "alleleId": 1086312,
        "preferredName": "NM_000202.8(IDS):c.1100C>T (p.Thr367Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1091352",
        "RCV": [
          "RCV001410809",
          "RCV002456656",
          "RCV001831453"
        ],
        "variationId": 1091352
      }
    ]
  },
  "type": "amino-acid"
}