{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830433122",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 440,
          "referenceAllele": "G",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NP_937820.1:p.Gly440Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2490654",
          "hgvs": "NM_198177.3:c.1318G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA353559733",
          "hgvs": "NM_198177.3:c.1318G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184964"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1176392[alleleid]",
        "alleleId": 1176392,
        "preferredName": "NM_001354604.2(MITF):c.1384G>A (p.Gly462Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1186984",
        "RCV": [
          "RCV001546273",
          "RCV002291762",
          "RCV002568965"
        ],
        "variationId": 1186984
      }
    ]
  },
  "type": "amino-acid"
}