{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645392002",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1414,
          "referenceAllele": "E",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "NP_057323.3:p.Glu1414Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16609582",
          "hgvs": "NM_016239.4:c.4240G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175082"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=389249[alleleid]",
        "alleleId": 389249,
        "preferredName": "NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/402262",
        "RCV": [
          "RCV000454215",
          "RCV001375262",
          "RCV003558389"
        ],
        "variationId": 402262
      }
    ]
  },
  "type": "amino-acid"
}