{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825105572",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 214,
          "referenceAllele": "R",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NP_000239.1:p.Arg214Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA353561700",
          "hgvs": "NM_000248.4:c.641G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146795"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1935562[alleleid]",
        "alleleId": 1935562,
        "preferredName": "NM_001354604.2(MITF):c.962G>A (p.Arg321Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1878809",
        "RCV": [
          "RCV002511310"
        ],
        "variationId": 1878809
      }
    ]
  },
  "type": "amino-acid"
}