{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828319640",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 315,
          "referenceAllele": "L",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_001356294.1:p.Leu315Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278720",
          "hgvs": "NM_001369365.1:c.944T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706658"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=176880[alleleid]",
        "alleleId": 176880,
        "preferredName": "NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/164664",
        "RCV": [
          "RCV000151482",
          "RCV000498129",
          "RCV001291467",
          "RCV001252672",
          "RCV004528877",
          "RCV001810427"
        ],
        "variationId": 164664
      }
    ]
  },
  "type": "amino-acid"
}