{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA132271",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 962,
          "referenceAllele": "Q",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_000251.3:p.Gln962His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA132270",
          "hgvs": "NM_000260.4:c.2886G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA381943311",
          "hgvs": "NM_000260.4:c.2886G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146807"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52364[alleleid]",
        "alleleId": 52364,
        "preferredName": "NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43194",
        "RCV": [
          "RCV000036098",
          "RCV000585012",
          "RCV001114200",
          "RCV001114201",
          "RCV001114199",
          "RCV001375324"
        ],
        "variationId": 43194
      }
    ]
  },
  "type": "amino-acid"
}