{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573092688",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 442,
          "referenceAllele": "H",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "NP_059129.3:p.His442Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5444635",
          "hgvs": "NM_017433.5:c.1324C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175461"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1293491[alleleid]",
        "alleleId": 1293491,
        "preferredName": "NM_017433.5(MYO3A):c.1324C>A (p.His442Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1303213",
        "RCV": [
          "RCV001756712"
        ],
        "variationId": 1303213
      }
    ]
  },
  "type": "amino-acid"
}