{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915981194",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1170,
          "referenceAllele": "E",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_001120652.1:p.Glu1170Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278649",
          "hgvs": "NM_001127180.2:c.3508G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151998"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52378[alleleid]",
        "alleleId": 52378,
        "preferredName": "NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43208",
        "RCV": [
          "RCV000036112",
          "RCV000664470",
          "RCV000763278",
          "RCV001075104",
          "RCV000988609",
          "RCV001291476",
          "RCV001385688",
          "RCV001826545",
          "RCV004541087"
        ],
        "variationId": 43208
      }
    ]
  },
  "type": "amino-acid"
}