{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA132197",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 378,
          "referenceAllele": "R",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NP_000251.3:p.Arg378Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA132196",
          "hgvs": "NM_000260.4:c.1132C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146807"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52305[alleleid]",
        "alleleId": 52305,
        "preferredName": "NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43135",
        "RCV": [
          "RCV000036039",
          "RCV000665432",
          "RCV001111945",
          "RCV001111946",
          "RCV001111947",
          "RCV001831624",
          "RCV001075067",
          "RCV001247583"
        ],
        "variationId": 43135
      }
    ]
  },
  "type": "amino-acid"
}