{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096987",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 258,
          "referenceAllele": "E",
          "start": 257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007551",
      "geneNCBI_id": 4607,
      "geneSymbol": "MYBPC3",
      "hgvs": [
        "NP_000247.2:p.Glu258Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA015823",
          "hgvs": "NM_000256.3:c.772G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146803"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51962[alleleid]",
        "alleleId": 51962,
        "preferredName": "NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42792",
        "RCV": [
          "RCV000035668",
          "RCV000161125",
          "RCV000158310",
          "RCV000205517",
          "RCV000247227",
          "RCV000763244",
          "RCV001170208",
          "RCV002290957"
        ],
        "variationId": 42792
      }
    ]
  },
  "type": "amino-acid"
}