{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825142348",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 498,
          "referenceAllele": "A",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NP_000329.2:p.Ala498Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA392311814",
          "hgvs": "NM_000338.3:c.1493C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146883"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1871280[alleleid]",
        "alleleId": 1871280,
        "preferredName": "NM_000338.3(SLC12A1):c.1493C>T (p.Ala498Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2137670",
        "RCV": [
          "RCV003064255"
        ],
        "variationId": 2137670
      }
    ]
  },
  "type": "amino-acid"
}