{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645453389",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 445,
          "referenceAllele": "V",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "NP_000325.4:p.Val445Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16043537",
          "hgvs": "NM_000334.4:c.1333G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA400635022",
          "hgvs": "NM_000334.4:c.1333G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361025[alleleid]",
        "alleleId": 361025,
        "preferredName": "NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=442007[alleleid]",
        "alleleId": 442007,
        "preferredName": "NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373945",
        "RCV": [
          "RCV000414792",
          "RCV000415234",
          "RCV000626662",
          "RCV001197414"
        ],
        "variationId": 373945
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/448262",
        "RCV": [
          "RCV000516348",
          "RCV000559054",
          "RCV004527624"
        ],
        "variationId": 448262
      }
    ]
  },
  "type": "amino-acid"
}