{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645448949",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 62,
          "referenceAllele": "M",
          "start": 61
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NP_000239.1:p.Met62Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2490366",
          "hgvs": "NM_000248.4:c.184A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146795"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=291435[alleleid]",
        "alleleId": 291435,
        "preferredName": "NM_001354604.2(MITF):c.505A>G (p.Met169Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/346494",
        "RCV": [
          "RCV000288018",
          "RCV000347693",
          "RCV001568741",
          "RCV002520178",
          "RCV003422332"
        ],
        "variationId": 346494
      }
    ]
  },
  "type": "amino-acid"
}