{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA278741",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 230,
          "referenceAllele": "A",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_000251.3:p.Ala230Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278740",
          "hgvs": "NM_000260.4:c.689C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146807"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178258[alleleid]",
        "alleleId": 178258,
        "preferredName": "NM_000260.4(MYO7A):c.689C>T (p.Ala230Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178993",
        "RCV": [
          "RCV000155771",
          "RCV000225087",
          "RCV000506187",
          "RCV001254945",
          "RCV001850134",
          "RCV004528892"
        ],
        "variationId": 178993
      }
    ]
  },
  "type": "amino-acid"
}