{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830209393",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 54,
          "referenceAllele": "V",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NP_597676.3:p.Val54Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA256511",
          "hgvs": "NM_133432.3:c.160G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181028"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27695[alleleid]",
        "alleleId": 27695,
        "preferredName": "NM_001267550.2(TTN):c.160G>A (p.Val54Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12656",
        "RCV": [
          "RCV000013492",
          "RCV001213576"
        ],
        "variationId": 12656
      }
    ]
  },
  "type": "amino-acid"
}