{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825407812",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "referenceAllele": "R",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NP_001035959.1:p.Arg279Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7464420",
          "hgvs": "NM_001042494.2:c.835C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150196"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=322257[alleleid]",
        "alleleId": 322257,
        "preferredName": "NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/315618",
        "RCV": [
          "RCV000395538",
          "RCV000879703",
          "RCV003957635"
        ],
        "variationId": 315618
      }
    ]
  },
  "type": "amino-acid"
}