{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA092974",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1142,
          "referenceAllele": "L",
          "start": 1141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NP_079375.3:p.Leu1142His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129613",
          "hgvs": "NM_025099.6:c.3425T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA287529433",
          "hgvs": "NM_025099.6:c.3425_3426delinsAT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178724"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39958[alleleid]",
        "alleleId": 39958,
        "preferredName": "NM_025099.6(CTC1):c.3425T>A (p.Leu1142His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1497858[alleleid]",
        "alleleId": 1497858,
        "preferredName": "NM_025099.6(CTC1):c.3425_3426delinsAT (p.Leu1142His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31001",
        "RCV": [
          "RCV000023992"
        ],
        "variationId": 31001
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1434160",
        "RCV": [
          "RCV001952814"
        ],
        "variationId": 1434160
      }
    ]
  },
  "type": "amino-acid"
}