{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057566000",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 249,
          "referenceAllele": "S",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010910",
      "geneNCBI_id": 6557,
      "geneSymbol": "SLC12A1",
      "hgvs": [
        "NP_001171761.1:p.Ser249Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA269460294",
          "hgvs": "NM_001184832.2:c.746C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156461"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=90707[alleleid]",
        "alleleId": 90707,
        "preferredName": "NM_000338.3(SLC12A1):c.746C>T (p.Ser249Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3577260",
        "RCV": [
          "RCV005005797"
        ],
        "variationId": 3577260
      }
    ]
  },
  "type": "amino-acid"
}