{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915977351",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 2219,
          "referenceAllele": "F",
          "start": 2218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN031928",
      "geneNCBI_id": 23218,
      "geneSymbol": "NBEAL2",
      "hgvs": [
        "NP_055990.1:p.Phe2219Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2361913",
          "hgvs": "NM_015175.3:c.6657C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA352534047",
          "hgvs": "NM_015175.3:c.6655T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA352534067",
          "hgvs": "NM_015175.3:c.6657C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174340"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=615347[alleleid]",
        "alleleId": 615347,
        "preferredName": "NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/627357",
        "RCV": [
          "RCV000852187",
          "RCV003330944"
        ],
        "variationId": 627357
      }
    ]
  },
  "type": "amino-acid"
}