{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA182409",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 376,
          "referenceAllele": "I",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_000251.3:p.Ile376Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA182408",
          "hgvs": "NM_000260.4:c.1126A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146807"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178240[alleleid]",
        "alleleId": 178240,
        "preferredName": "NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178478",
        "RCV": [
          "RCV000155226",
          "RCV001040160",
          "RCV001111943",
          "RCV001111942",
          "RCV001111944",
          "RCV002516123",
          "RCV004534988"
        ],
        "variationId": 178478
      }
    ]
  },
  "type": "amino-acid"
}