{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA132302",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1218,
          "referenceAllele": "G",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_000251.3:p.Gly1218Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA132301",
          "hgvs": "NM_000260.4:c.3652G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA381947149",
          "hgvs": "NM_000260.4:c.3652G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146807"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52386[alleleid]",
        "alleleId": 52386,
        "preferredName": "NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43216",
        "RCV": [
          "RCV000036120",
          "RCV001852744",
          "RCV003230377"
        ],
        "variationId": 43216
      }
    ]
  },
  "type": "amino-acid"
}