{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA344562",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 207,
          "referenceAllele": "E",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "NP_001091.1:p.Glu207Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA344560",
          "hgvs": "NM_001100.4:c.621G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA345147510",
          "hgvs": "NM_001100.4:c.621G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150996"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51274[alleleid]",
        "alleleId": 51274,
        "preferredName": "NM_001100.4(ACTA1):c.621G>C (p.Glu207Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42108",
        "RCV": [
          "RCV000034935"
        ],
        "variationId": 42108
      }
    ]
  },
  "type": "amino-acid"
}