{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826672939",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 608,
          "referenceAllele": "P",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NP_001269831.1:p.Pro608Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4851764",
          "hgvs": "NM_001282902.3:c.1822C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162788"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=587221[alleleid]",
        "alleleId": 587221,
        "preferredName": "NM_014112.5(TRPS1):c.1849C>T (p.Pro617Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/596160",
        "RCV": [
          "RCV000731903",
          "RCV003768217",
          "RCV003165979"
        ],
        "variationId": 596160
      }
    ]
  },
  "type": "amino-acid"
}