{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828319442",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 122,
          "referenceAllele": "H",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_001356294.1:p.His122Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278660",
          "hgvs": "NM_001369365.1:c.364C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706658"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52398[alleleid]",
        "alleleId": 52398,
        "preferredName": "NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43228",
        "RCV": [
          "RCV000036132",
          "RCV001852746",
          "RCV002482971",
          "RCV003987336"
        ],
        "variationId": 43228
      }
    ]
  },
  "type": "amino-acid"
}