{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829426352",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 425,
          "referenceAllele": "M",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011773",
      "geneNCBI_id": 7048,
      "geneSymbol": "TGFBR2",
      "hgvs": [
        "NP_003233.4:p.Met425Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351808904",
          "hgvs": "NM_003242.6:c.1273A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351808905",
          "hgvs": "NM_003242.6:c.1273A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169040"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=559423[alleleid]",
        "alleleId": 559423,
        "preferredName": "NM_003242.6(TGFBR2):c.1273A>C (p.Met425Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3014810[alleleid]",
        "alleleId": 3014810,
        "preferredName": "NM_003242.6(TGFBR2):c.1273A>T (p.Met425Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/573021",
        "RCV": [
          "RCV000694569",
          "RCV001260329"
        ],
        "variationId": 573021
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2845355",
        "RCV": [
          "RCV003644165"
        ],
        "variationId": 2845355
      }
    ]
  },
  "type": "amino-acid"
}