{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109511",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 275,
          "referenceAllele": "A",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011743",
      "geneNCBI_id": 7021,
      "geneSymbol": "TFAP2B",
      "hgvs": [
        "NP_003212.2:p.Ala275Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340716",
          "hgvs": "NM_003221.4:c.824C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169026"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23078[alleleid]",
        "alleleId": 23078,
        "preferredName": "NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8039",
        "RCV": [
          "RCV000008505"
        ],
        "variationId": 8039
      }
    ]
  },
  "type": "amino-acid"
}