{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA138854",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 5031,
          "referenceAllele": "N",
          "start": 5030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012403",
      "geneNCBI_id": 7273,
      "geneSymbol": "TTN",
      "hgvs": [
        "NP_596869.4:p.Asn5031Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA138852",
          "hgvs": "NM_133378.4:c.15092A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181026"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55811[alleleid]",
        "alleleId": 55811,
        "preferredName": "NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46646",
        "RCV": [
          "RCV000039916",
          "RCV000082364",
          "RCV000262868",
          "RCV000302779",
          "RCV000296922",
          "RCV000355321",
          "RCV000342596",
          "RCV001082917",
          "RCV000852901",
          "RCV001798131"
        ],
        "variationId": 46646
      }
    ]
  },
  "type": "amino-acid"
}