{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094701",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 313,
          "referenceAllele": "T",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014581",
      "geneNCBI_id": 65018,
      "geneSymbol": "PINK1",
      "hgvs": [
        "NP_115785.1:p.Thr313Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252276",
          "hgvs": "NM_032409.3:c.938C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179581"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17452[alleleid]",
        "alleleId": 17452,
        "preferredName": "NM_032409.3(PINK1):c.938C>T (p.Thr313Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2413",
        "RCV": [
          "RCV000002514"
        ],
        "variationId": 2413
      }
    ]
  },
  "type": "amino-acid"
}