{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA105629",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 172,
          "referenceAllele": "R",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007392",
      "geneNCBI_id": 4488,
      "geneSymbol": "MSX2",
      "hgvs": [
        "NP_002440.2:p.Arg172His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127003",
          "hgvs": "NM_002449.5:c.515G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168301"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32002[alleleid]",
        "alleleId": 32002,
        "preferredName": "NM_002449.5(MSX2):c.515G>A (p.Arg172His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16963",
        "RCV": [
          "RCV000018476"
        ],
        "variationId": 16963
      }
    ]
  },
  "type": "amino-acid"
}