{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827882392",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 334,
          "referenceAllele": "S",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NP_001341536.1:p.Ser334Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA353561959",
          "hgvs": "NM_001354607.2:c.1001C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617892"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1192627[alleleid]",
        "alleleId": 1192627,
        "preferredName": "NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1202629",
        "RCV": [
          "RCV001729950"
        ],
        "variationId": 1202629
      }
    ]
  },
  "type": "amino-acid"
}