{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741819206",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 479,
          "referenceAllele": "I",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001681",
      "geneNCBI_id": 960,
      "geneSymbol": "CD44",
      "hgvs": [
        "NP_000601.3:p.Ile479Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5946704",
          "hgvs": "NM_000610.4:c.1436T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147138"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3196644[alleleid]",
        "alleleId": 3196644,
        "preferredName": "NM_000610.4(CD44):c.1436T>C (p.Ile479Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3058927",
        "RCV": [
          "RCV003979552"
        ],
        "variationId": 3058927
      }
    ]
  },
  "type": "amino-acid"
}