{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827882390",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 332,
          "referenceAllele": "K",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NP_001341536.1:p.Lys332Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2490565",
          "hgvs": "NM_001354607.2:c.995A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580070418",
          "hgvs": "NM_001354607.2:c.987_995delinsTATCTTAAG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617892"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=889618[alleleid]",
        "alleleId": 889618,
        "preferredName": "NM_001354604.2(MITF):c.1064A>G (p.Lys355Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1709049[alleleid]",
        "alleleId": 1709049,
        "preferredName": "NM_001354604.2(MITF):c.1056_1064delinsTATCTTAAG (p.Lys355Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/902086",
        "RCV": [
          "RCV001148361",
          "RCV001148362"
        ],
        "variationId": 902086
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1710638",
        "RCV": [
          "RCV002291925"
        ],
        "variationId": 1710638
      }
    ]
  },
  "type": "amino-acid"
}