{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825295637",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 1007,
          "referenceAllele": "L",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NP_001008844.1:p.Leu1007Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA133965889",
          "hgvs": "NM_001008844.3:c.3019C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148544"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=910323[alleleid]",
        "alleleId": 910323,
        "preferredName": "NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/920654",
        "RCV": [
          "RCV001179510",
          "RCV001875940",
          "RCV002491519"
        ],
        "variationId": 920654
      }
    ]
  },
  "type": "amino-acid"
}