{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827282494",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 344,
          "referenceAllele": "F",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001402",
      "geneNCBI_id": 783,
      "geneSymbol": "CACNB2",
      "hgvs": [
        "NP_001316989.1:p.Phe344Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA301842",
          "hgvs": "NM_001330060.2:c.1032C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA376069990",
          "hgvs": "NM_001330060.2:c.1030T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA376070006",
          "hgvs": "NM_001330060.2:c.1032C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648233"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188481[alleleid]",
        "alleleId": 188481,
        "preferredName": "NM_201596.3(CACNB2):c.1311C>A (p.Phe437Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/190725",
        "RCV": [
          "RCV000170867",
          "RCV002453580"
        ],
        "variationId": 190725
      }
    ]
  },
  "type": "amino-acid"
}