{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828320422",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 950,
          "referenceAllele": "G",
          "start": 949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_001356294.1:p.Gly950Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA132268",
          "hgvs": "NM_001369365.1:c.2849G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706658"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52363[alleleid]",
        "alleleId": 52363,
        "preferredName": "NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43193",
        "RCV": [
          "RCV000036097",
          "RCV000263497",
          "RCV000316472",
          "RCV000354842",
          "RCV001041392",
          "RCV001831632"
        ],
        "variationId": 43193
      }
    ]
  },
  "type": "amino-acid"
}