{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA281637",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 450,
          "referenceAllele": "M",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NP_001020018.1:p.Met450Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA020640",
          "hgvs": "NM_001024847.2:c.1348A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149275"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27556[alleleid]",
        "alleleId": 27556,
        "preferredName": "NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12517",
        "RCV": [
          "RCV000013342",
          "RCV001325332"
        ],
        "variationId": 12517
      }
    ]
  },
  "type": "amino-acid"
}