{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826673562",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 1103,
          "referenceAllele": "L",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012340",
      "geneNCBI_id": 7227,
      "geneSymbol": "TRPS1",
      "hgvs": [
        "NP_001269832.1:p.Leu1103Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4851504",
          "hgvs": "NM_001282903.3:c.3307C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162789"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=270799[alleleid]",
        "alleleId": 270799,
        "preferredName": "NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/286562",
        "RCV": [
          "RCV000364263",
          "RCV001079045",
          "RCV004543087"
        ],
        "variationId": 286562
      }
    ]
  },
  "type": "amino-acid"
}