{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826151384",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 260,
          "referenceAllele": "L",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NP_001171896.1:p.Leu260Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA353561671",
          "hgvs": "NM_001184967.2:c.779T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156515"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=537756[alleleid]",
        "alleleId": 537756,
        "preferredName": "NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/547531",
        "RCV": [
          "RCV000659862",
          "RCV002466557",
          "RCV003767914"
        ],
        "variationId": 547531
      }
    ]
  },
  "type": "amino-acid"
}