{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645374705",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 228,
          "referenceAllele": "G",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005136",
      "geneNCBI_id": 3239,
      "geneSymbol": "HOXD13",
      "hgvs": [
        "NP_000514.2:p.Gly228Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16040613",
          "hgvs": "NM_000523.4:c.683G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147058"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227490[alleleid]",
        "alleleId": 227490,
        "preferredName": "NM_000523.4(HOXD13):c.683G>C (p.Gly228Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225654",
        "RCV": [
          "RCV000210946"
        ],
        "variationId": 225654
      }
    ]
  },
  "type": "amino-acid"
}