{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580166052",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 2012,
          "referenceAllele": "E",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023212",
      "geneNCBI_id": 79784,
      "geneSymbol": "MYH14",
      "hgvs": [
        "NP_001139281.1:p.Glu2012Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9593991",
          "hgvs": "NM_001145809.2:c.6034G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154241"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2049006[alleleid]",
        "alleleId": 2049006,
        "preferredName": "NM_001145809.2(MYH14):c.6034G>A (p.Glu2012Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1992358",
        "RCV": [
          "RCV002814357"
        ],
        "variationId": 1992358
      }
    ]
  },
  "type": "amino-acid"
}