{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830348797",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 556,
          "referenceAllele": "T",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
        "NP_751948.1:p.Thr556Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1007367",
          "hgvs": "NM_172198.3:c.1667C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183197"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=794371[alleleid]",
        "alleleId": 794371,
        "preferredName": "NM_001378969.1(KCND3):c.1724C>T (p.Thr575Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2562842",
        "RCV": [
          "RCV003296835"
        ],
        "variationId": 2562842
      }
    ]
  },
  "type": "amino-acid"
}