{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826419941",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 19552,
          "referenceAllele": "R",
          "start": 19551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NP_001243779.1:p.Arg19552His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA183601",
          "hgvs": "NM_001256850.1:c.58655G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159944"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=172849[alleleid]",
        "alleleId": 172849,
        "preferredName": "NM_001267550.2(TTN):c.63578G>A (p.Arg21193His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179044",
        "RCV": [
          "RCV000155828",
          "RCV000469678",
          "RCV001133875",
          "RCV001130904",
          "RCV001130905",
          "RCV001130906",
          "RCV001130907",
          "RCV001293204",
          "RCV002453519",
          "RCV003137672"
        ],
        "variationId": 179044
      }
    ]
  },
  "type": "amino-acid"
}