{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA124433",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 153,
          "referenceAllele": "P",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007391",
      "geneNCBI_id": 4487,
      "geneSymbol": "MSX1",
      "hgvs": [
        "NP_002439.2:p.Pro153Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA124432",
          "hgvs": "NM_002448.3:c.458C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168300"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29924[alleleid]",
        "alleleId": 29924,
        "preferredName": "NM_002448.3(MSX1):c.458C>A (p.Pro153Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14885",
        "RCV": [
          "RCV000016014",
          "RCV001448310",
          "RCV001528695"
        ],
        "variationId": 14885
      }
    ]
  },
  "type": "amino-acid"
}