{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499275032",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 553,
          "referenceAllele": "C",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007608",
      "geneNCBI_id": 4649,
      "geneSymbol": "MYO9A",
      "hgvs": [
        "NP_008832.2:p.Cys553Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA393053606",
          "hgvs": "NM_006901.4:c.1658G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172409"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1203751[alleleid]",
        "alleleId": 1203751,
        "preferredName": "NM_006901.4(MYO9A):c.1658G>A (p.Cys553Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1213758",
        "RCV": [
          "RCV001591707",
          "RCV003313228"
        ],
        "variationId": 1213758
      }
    ]
  },
  "type": "amino-acid"
}