{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658829135",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 505,
          "referenceAllele": "L",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015455",
      "geneNCBI_id": 51360,
      "geneSymbol": "MBTPS2",
      "hgvs": [
        "NP_056968.1:p.Leu505Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412570760",
          "hgvs": "NM_015884.4:c.1515G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412570762",
          "hgvs": "NM_015884.4:c.1515G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174792"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=549496[alleleid]",
        "alleleId": 549496,
        "preferredName": "NM_015884.4(MBTPS2):c.1515G>C (p.Leu505Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/558768",
        "RCV": [
          "RCV000675189"
        ],
        "variationId": 558768
      }
    ]
  },
  "type": "amino-acid"
}