{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA279758",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 311,
          "referenceAllele": "L",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013818",
      "geneNCBI_id": 57468,
      "geneSymbol": "SLC12A5",
      "hgvs": [
        "NP_001128243.1:p.Leu311His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA279757",
          "hgvs": "NM_001134771.2:c.932T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152765"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214561[alleleid]",
        "alleleId": 214561,
        "preferredName": "NM_020708.5(SLC12A5):c.863T>A (p.Leu288His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217906",
        "RCV": [
          "RCV000202151"
        ],
        "variationId": 217906
      }
    ]
  },
  "type": "amino-acid"
}