{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827881810",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 516,
          "referenceAllele": "M",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NP_001341534.1:p.Met516Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA353560072",
          "hgvs": "NM_001354605.2:c.1548G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA353560073",
          "hgvs": "NM_001354605.2:c.1548G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA353560074",
          "hgvs": "NM_001354605.2:c.1548G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617995"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3096018[alleleid]",
        "alleleId": 3096018,
        "preferredName": "NM_001354604.2(MITF):c.1551G>A (p.Met517Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2937538",
        "RCV": [
          "RCV003794168"
        ],
        "variationId": 2937538
      }
    ]
  },
  "type": "amino-acid"
}