{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645448952",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 213,
          "referenceAllele": "E",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NP_000239.1:p.Glu213Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16605010",
          "hgvs": "NM_000248.4:c.637G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146795"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=368813[alleleid]",
        "alleleId": 368813,
        "preferredName": "NM_001354604.2(MITF):c.958G>C (p.Glu320Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/387380",
        "RCV": [
          "RCV000424648",
          "RCV003766333"
        ],
        "variationId": 387380
      }
    ]
  },
  "type": "amino-acid"
}