{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573289725",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 41,
          "referenceAllele": "A",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018145",
      "geneNCBI_id": 84295,
      "geneSymbol": "PHF6",
      "hgvs": [
        "NP_115834.1:p.Ala41Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10521138",
          "hgvs": "NM_032458.3:c.122C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179622"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1368642[alleleid]",
        "alleleId": 1368642,
        "preferredName": "NM_001015877.2(PHF6):c.122C>T (p.Ala41Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1440192",
        "RCV": [
          "RCV001978793"
        ],
        "variationId": 1440192
      }
    ]
  },
  "type": "amino-acid"
}