{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825735657",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 547,
          "referenceAllele": "L",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000163",
      "geneNCBI_id": 87,
      "geneSymbol": "ACTN1",
      "hgvs": [
        "NP_001123476.1:p.Leu547Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA390183661",
          "hgvs": "NM_001130004.2:c.1640T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152385"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=615551[alleleid]",
        "alleleId": 615551,
        "preferredName": "NM_001130004.2(ACTN1):c.1640T>C (p.Leu547Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/627171",
        "RCV": [
          "RCV000851929"
        ],
        "variationId": 627171
      }
    ]
  },
  "type": "amino-acid"
}