{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139685526",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 331,
          "referenceAllele": "A",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NP_001238949.1:p.Ala331Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7452764",
          "hgvs": "NM_001252020.2:c.992C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159294"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=927267[alleleid]",
        "alleleId": 927267,
        "preferredName": "NM_001252024.2(TRPM1):c.941C>A (p.Ala314Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/949387",
        "RCV": [
          "RCV001220836"
        ],
        "variationId": 949387
      }
    ]
  },
  "type": "amino-acid"
}