{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830433352",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 109,
          "referenceAllele": "P",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NP_937821.2:p.Pro109Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2490480",
          "hgvs": "NM_198178.3:c.326C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184965"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2801025[alleleid]",
        "alleleId": 2801025,
        "preferredName": "NM_001354604.2(MITF):c.815C>A (p.Pro272Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2631491",
        "RCV": [
          "RCV003404614"
        ],
        "variationId": 2631491
      }
    ]
  },
  "type": "amino-acid"
}