{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139686198",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 503,
          "referenceAllele": "V",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001397",
      "geneNCBI_id": 779,
      "geneSymbol": "CACNA1S",
      "hgvs": [
        "NP_000060.2:p.Val503Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA078278",
          "hgvs": "NM_000069.3:c.1507G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=952210[alleleid]",
        "alleleId": 952210,
        "preferredName": "NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/965585",
        "RCV": [
          "RCV001240073",
          "RCV002480791",
          "RCV003449743",
          "RCV003449744",
          "RCV003449745",
          "RCV003458653"
        ],
        "variationId": 965585
      }
    ]
  },
  "type": "amino-acid"
}