{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645510094",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 617,
          "referenceAllele": "S",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_000251.3:p.Ser617Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6197628",
          "hgvs": "NM_000260.4:c.1849T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146807"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431763[alleleid]",
        "alleleId": 431763,
        "preferredName": "NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438172",
        "RCV": [
          "RCV000504967",
          "RCV000670176",
          "RCV000681537",
          "RCV001291471",
          "RCV003558426"
        ],
        "variationId": 438172
      }
    ]
  },
  "type": "amino-acid"
}