{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825423170",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 4971,
          "referenceAllele": "F",
          "start": 4970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010483",
      "geneNCBI_id": 6261,
      "geneSymbol": "RYR1",
      "hgvs": [
        "NP_001036188.1:p.Phe4971Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA024278",
          "hgvs": "NM_001042723.2:c.14913C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA308126717",
          "hgvs": "NM_001042723.2:c.14913C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA405693071",
          "hgvs": "NM_001042723.2:c.14911T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150282"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=198035[alleleid]",
        "alleleId": 198035,
        "preferredName": "NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2921919[alleleid]",
        "alleleId": 2921919,
        "preferredName": "NM_000540.3(RYR1):c.14928C>A (p.Phe4976Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/201154",
        "RCV": [
          "RCV000210545",
          "RCV000721408",
          "RCV000793270",
          "RCV001449967",
          "RCV002051687"
        ],
        "variationId": 201154
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2760740",
        "RCV": [
          "RCV003591571"
        ],
        "variationId": 2760740
      }
    ]
  },
  "type": "amino-acid"
}