{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645510020",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1075,
          "referenceAllele": "D",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NP_001238949.1:p.Asp1075Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA391544078",
          "hgvs": "NM_001252020.2:c.3225T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA391544081",
          "hgvs": "NM_001252020.2:c.3225T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159294"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=431780[alleleid]",
        "alleleId": 431780,
        "preferredName": "NM_001252024.2(TRPM1):c.3174T>A (p.Asp1058Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/438218",
        "RCV": [
          "RCV000504895"
        ],
        "variationId": 438218
      }
    ]
  },
  "type": "amino-acid"
}