{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA913194745",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 48,
          "referenceAllele": "R",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019750",
      "geneNCBI_id": 57217,
      "geneSymbol": "TTC7A",
      "hgvs": [
        "NP_065191.2:p.Arg48Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1647036",
          "hgvs": "NM_020458.3:c.142A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176950"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=614244[alleleid]",
        "alleleId": 614244,
        "preferredName": "NM_020458.4(TTC7A):c.142A>G (p.Arg48Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/626201",
        "RCV": [
          "RCV000768357",
          "RCV003224463"
        ],
        "variationId": 626201
      }
    ]
  },
  "type": "amino-acid"
}