{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099600",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 134,
          "referenceAllele": "I",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_000251.3:p.Ile134Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278663",
          "hgvs": "NM_000260.4:c.401T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146807"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52400[alleleid]",
        "alleleId": 52400,
        "preferredName": "NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43230",
        "RCV": [
          "RCV000036134",
          "RCV000673536",
          "RCV001074683",
          "RCV001231996",
          "RCV001775073",
          "RCV004528177"
        ],
        "variationId": 43230
      }
    ]
  },
  "type": "amino-acid"
}