{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915978051",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 643,
          "referenceAllele": "P",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010912",
      "geneNCBI_id": 6559,
      "geneSymbol": "SLC12A3",
      "hgvs": [
        "NP_001119580.2:p.Pro643Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8069667",
          "hgvs": "NM_001126108.2:c.1928C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707564"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=404824[alleleid]",
        "alleleId": 404824,
        "preferredName": "NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/417863",
        "RCV": [
          "RCV000477915",
          "RCV000681948",
          "RCV001328101",
          "RCV004023099"
        ],
        "variationId": 417863
      }
    ]
  },
  "type": "amino-acid"
}