{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA246661",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 392,
          "referenceAllele": "L",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NP_002684.1:p.Leu392Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA246660",
          "hgvs": "NM_002693.3:c.1174C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168528"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=195312[alleleid]",
        "alleleId": 195312,
        "preferredName": "NM_002693.3(POLG):c.1174C>G (p.Leu392Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/198151",
        "RCV": [
          "RCV000188651",
          "RCV000475753",
          "RCV000515415",
          "RCV000710181",
          "RCV001119511",
          "RCV001847818",
          "RCV002317054",
          "RCV003985741"
        ],
        "variationId": 198151
      }
    ]
  },
  "type": "amino-acid"
}