{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645392200",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 2939,
          "referenceAllele": "R",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "NP_057323.3:p.Arg2939His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8425281",
          "hgvs": "NM_016239.4:c.8816G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175082"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=327616[alleleid]",
        "alleleId": 327616,
        "preferredName": "NM_016239.4(MYO15A):c.8816G>A (p.Arg2939His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/322173",
        "RCV": [
          "RCV000304083",
          "RCV000614865",
          "RCV001582964",
          "RCV002522920"
        ],
        "variationId": 322173
      }
    ]
  },
  "type": "amino-acid"
}