{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916070932",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 552,
          "referenceAllele": "T",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010891",
      "geneNCBI_id": 147912,
      "geneSymbol": "SIX5",
      "hgvs": [
        "NP_787071.3:p.Thr552Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340801",
          "hgvs": "NM_175875.5:c.1655C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674447"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23640[alleleid]",
        "alleleId": 23640,
        "preferredName": "NM_175875.5(SIX5):c.1655C>T (p.Thr552Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8601",
        "RCV": [
          "RCV000009132",
          "RCV001851753"
        ],
        "variationId": 8601
      }
    ]
  },
  "type": "amino-acid"
}