{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA254376",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "EP",
          "end": 49,
          "referenceAllele": "GA",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NP_000011.2:p.Gly48_Ala49delinsGluPro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254375",
          "hgvs": "NM_000020.3:c.143_147delinsAGCCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146573"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23286[alleleid]",
        "alleleId": 23286,
        "preferredName": "NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8247",
        "RCV": [
          "RCV000008731"
        ],
        "variationId": 8247
      }
    ]
  },
  "type": "amino-acid"
}