{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828165607",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 380,
          "referenceAllele": "R",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NP_001352017.1:p.Arg380His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7464373",
          "hgvs": "NM_001365088.1:c.1139G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618255"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=688397[alleleid]",
        "alleleId": 688397,
        "preferredName": "NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/702031",
        "RCV": [
          "RCV000870854",
          "RCV001272575",
          "RCV003908268"
        ],
        "variationId": 702031
      }
    ]
  },
  "type": "amino-acid"
}