{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA107694",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 161,
          "referenceAllele": "F",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001395",
      "geneNCBI_id": 8912,
      "geneSymbol": "CACNA1H",
      "hgvs": [
        "NP_066921.2:p.Phe161Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214922",
          "hgvs": "NM_021098.3:c.483C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA7799443",
          "hgvs": "NM_021098.3:c.483C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394152806",
          "hgvs": "NM_021098.3:c.481T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177353"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17740[alleleid]",
        "alleleId": 17740,
        "preferredName": "NM_021098.3(CACNA1H):c.483C>A (p.Phe161Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1388524[alleleid]",
        "alleleId": 1388524,
        "preferredName": "NM_021098.3(CACNA1H):c.483C>G (p.Phe161Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2701",
        "RCV": [
          "RCV000002820"
        ],
        "variationId": 2701
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1444560",
        "RCV": [
          "RCV001982480",
          "RCV002484740"
        ],
        "variationId": 1444560
      }
    ]
  },
  "type": "amino-acid"
}