{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3071004672",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 546,
          "referenceAllele": "A",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011771",
      "geneNCBI_id": 7045,
      "geneSymbol": "TGFBI",
      "hgvs": [
        "NP_000349.1:p.Ala546Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA361041905",
          "hgvs": "NM_000358.3:c.1637C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146902"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4296549[alleleid]",
        "alleleId": 4296549,
        "preferredName": "NM_000358.3(TGFBI):c.1637C>G (p.Ala546Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4183565",
        "RCV": [
          "RCV005758441"
        ],
        "variationId": 4183565
      }
    ]
  },
  "type": "amino-acid"
}