{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830431965",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 378,
          "referenceAllele": "A",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007105",
      "geneNCBI_id": 4286,
      "geneSymbol": "MITF",
      "hgvs": [
        "NP_937802.1:p.Ala378Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2490580",
          "hgvs": "NM_198159.3:c.1132G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184960"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=654350[alleleid]",
        "alleleId": 654350,
        "preferredName": "NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/666714",
        "RCV": [
          "RCV001580031",
          "RCV000825187",
          "RCV002538209"
        ],
        "variationId": 666714
      }
    ]
  },
  "type": "amino-acid"
}