{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3089133819",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 2022,
          "referenceAllele": "Q",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_001356294.1:p.Gln2022Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA381936239",
          "hgvs": "NM_001369365.1:c.6064C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706658"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4174660[alleleid]",
        "alleleId": 4174660,
        "preferredName": "NM_000260.4(MYO7A):c.6211C>G (p.Gln2071Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4058153",
        "RCV": [
          "RCV005607172"
        ],
        "variationId": 4058153
      }
    ]
  },
  "type": "amino-acid"
}