{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580368152",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 51,
          "referenceAllele": "S",
          "start": 50
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NP_054831.2:p.Ser51Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4852046",
          "hgvs": "NM_014112.4:c.152C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173467"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2203822[alleleid]",
        "alleleId": 2203822,
        "preferredName": "NM_014112.5(TRPS1):c.152C>T (p.Ser51Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2207840",
        "RCV": [
          "RCV002645558",
          "RCV003777586"
        ],
        "variationId": 2207840
      }
    ]
  },
  "type": "amino-acid"
}