{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826869147",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 117,
          "referenceAllele": "E",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012011",
      "geneNCBI_id": 7169,
      "geneSymbol": "TPM2",
      "hgvs": [
        "NP_001288155.1:p.Glu117Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA232643",
          "hgvs": "NM_001301226.2:c.349G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165631"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27501[alleleid]",
        "alleleId": 27501,
        "preferredName": "NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12462",
        "RCV": [
          "RCV000013278",
          "RCV000128681",
          "RCV000531827"
        ],
        "variationId": 12462
      }
    ]
  },
  "type": "amino-acid"
}