{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA344556",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 48,
          "referenceAllele": "G",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "NP_001091.1:p.Gly48Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA344554",
          "hgvs": "NM_001100.4:c.143G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150996"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51272[alleleid]",
        "alleleId": 51272,
        "preferredName": "NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42106",
        "RCV": [
          "RCV000034933",
          "RCV000807360"
        ],
        "variationId": 42106
      }
    ]
  },
  "type": "amino-acid"
}