{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499261467",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 208,
          "referenceAllele": "S",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007391",
      "geneNCBI_id": 4487,
      "geneSymbol": "MSX1",
      "hgvs": [
        "NP_002439.2:p.Ser208Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2833087",
          "hgvs": "NM_002448.3:c.623C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168300"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1005300[alleleid]",
        "alleleId": 1005300,
        "preferredName": "NM_002448.3(MSX1):c.623C>G (p.Ser208Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1022700",
        "RCV": [
          "RCV001322640",
          "RCV004531112"
        ],
        "variationId": 1022700
      }
    ]
  },
  "type": "amino-acid"
}