{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916057506",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 52,
          "referenceAllele": "H",
          "start": 51
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NP_937821.2:p.His52Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2490409",
          "hgvs": "NM_198178.3:c.155A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184965"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=296032[alleleid]",
        "alleleId": 296032,
        "preferredName": "NM_001354604.2(MITF):c.644A>T (p.His215Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/346495",
        "RCV": [
          "RCV000283175",
          "RCV000405002",
          "RCV000977275",
          "RCV002257652",
          "RCV002520179"
        ],
        "variationId": 346495
      }
    ]
  },
  "type": "amino-acid"
}