{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645485227",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 204,
          "referenceAllele": "D",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "NP_059129.3:p.Asp204Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5444383",
          "hgvs": "NM_017433.5:c.610G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175461"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=321134[alleleid]",
        "alleleId": 321134,
        "preferredName": "NM_017433.5(MYO3A):c.610G>A (p.Asp204Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/299646",
        "RCV": [
          "RCV000284109",
          "RCV000922737"
        ],
        "variationId": 299646
      }
    ]
  },
  "type": "amino-acid"
}