{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830433086",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 403,
          "referenceAllele": "E",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NP_937820.1:p.Glu403Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128649",
          "hgvs": "NM_198177.3:c.1207G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184964"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38747[alleleid]",
        "alleleId": 38747,
        "preferredName": "NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29792",
        "RCV": [
          "RCV000022661",
          "RCV000129682",
          "RCV000222278",
          "RCV000627790",
          "RCV000484916",
          "RCV001195106",
          "RCV002247378",
          "RCV001535706",
          "RCV002490402"
        ],
        "variationId": 29792
      }
    ]
  },
  "type": "amino-acid"
}