{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658670711",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 74,
          "referenceAllele": "Q",
          "start": 73
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012399",
      "geneNCBI_id": 9499,
      "geneSymbol": "MYOT",
      "hgvs": [
        "NP_006781.1:p.Gln74Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128097466",
          "hgvs": "NM_006790.3:c.220C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=455066[alleleid]",
        "alleleId": 455066,
        "preferredName": "NM_006790.3(MYOT):c.220C>A (p.Gln74Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/464369",
        "RCV": [
          "RCV000712368",
          "RCV001079228",
          "RCV000615351"
        ],
        "variationId": 464369
      }
    ]
  },
  "type": "amino-acid"
}