{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825336775",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 414,
          "referenceAllele": "N",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NP_001020018.1:p.Asn414Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351808678",
          "hgvs": "NM_001024847.2:c.1242C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351808679",
          "hgvs": "NM_001024847.2:c.1242C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149275"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3181149[alleleid]",
        "alleleId": 3181149,
        "preferredName": "NM_003242.6(TGFBR2):c.1167C>G (p.Asn389Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3013055",
        "RCV": [
          "RCV003870150"
        ],
        "variationId": 3013055
      }
    ]
  },
  "type": "amino-acid"
}