{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139685932",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 256,
          "referenceAllele": "I",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NP_000060.2:p.Ile256Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA083995",
          "hgvs": "NM_000069.3:c.766A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=863259[alleleid]",
        "alleleId": 863259,
        "preferredName": "NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/876796",
        "RCV": [
          "RCV001101988",
          "RCV001856390",
          "RCV002489745",
          "RCV003317431",
          "RCV003517298"
        ],
        "variationId": 876796
      }
    ]
  },
  "type": "amino-acid"
}