{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349049423",
  "communityStandardTitle": [
    "NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2670320[alleleid]",
        "alleleId": 2670320,
        "preferredName": "NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2505357",
        "RCV": [
          "RCV003234626"
        ],
        "variationId": 2505357
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.166854645T>C?assembly=hg19",
        "id": "chr2:g.166854645T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.165998135T>C?assembly=hg38",
        "id": "chr2:g.165998135T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2468394894",
        "rs": 2468394894
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 165998135,
          "referenceAllele": "T",
          "start": 165998134
        }
      ],
      "hgvs": [
        "NC_000002.12:g.165998135T>C",
        "CM000664.2:g.165998135T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166854645,
          "referenceAllele": "T",
          "start": 166854644
        }
      ],
      "hgvs": [
        "NC_000002.11:g.166854645T>C",
        "CM000664.1:g.166854645T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 166562891,
          "referenceAllele": "T",
          "start": 166562890
        }
      ],
      "hgvs": [
        "NC_000002.10:g.166562891T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 80505,
          "referenceAllele": "A",
          "start": 80504
        }
      ],
      "hgvs": [
        "NG_011906.1:g.80505A>G",
        "LRG_8:g.80505A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002054"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4522,
          "referenceAllele": "A",
          "start": 4521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000689288.1:c.*2415A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509637.1:n.*2415A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4770,
          "referenceAllele": "A",
          "start": 4769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.9:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Tyr1460Cys",
        "hgvsWellDefined": "ENSP00000303540.4:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4563,
          "referenceAllele": "A",
          "start": 4562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635750.1:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490799.1:p.Tyr1449Cys",
        "hgvsWellDefined": "ENSP00000490799.1:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4648,
          "referenceAllele": "A",
          "start": 4647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000635776.1:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490692.1:p.Tyr1449Cys",
        "hgvsWellDefined": "ENSP00000490692.1:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4772,
          "referenceAllele": "A",
          "start": 4771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000636194.1:c.*1872A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490288.1:n.*1872A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762941"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1241,
          "referenceAllele": "A",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637038.1:c.1241A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS763565"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4826,
          "referenceAllele": "A",
          "start": 4825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000637988.1:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490780.1:p.Tyr1449Cys",
        "hgvsWellDefined": "ENSP00000490780.1:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4395,
          "referenceAllele": "A",
          "start": 4394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000640036.1:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491573.1:p.Tyr1449Cys",
        "hgvsWellDefined": "ENSP00000491573.1:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4619,
          "referenceAllele": "A",
          "start": 4618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641575.1:c.4343A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492917.1:p.Tyr1448Cys",
        "hgvsWellDefined": "ENSP00000492917.1:p.Tyr1448Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4251,
          "referenceAllele": "A",
          "start": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641603.1:c.4097A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492945.1:p.Tyr1366Cys",
        "hgvsWellDefined": "ENSP00000492945.1:p.Tyr1366Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4648,
          "referenceAllele": "A",
          "start": 4647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000641996.1:c.*3933A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493054.1:n.*3933A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4598,
          "referenceAllele": "A",
          "start": 4597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000671940.1:c.*2322A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500336.1:n.*2322A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773217"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6852,
          "referenceAllele": "A",
          "start": 6851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000673490.1:n.6852A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4857,
          "referenceAllele": "A",
          "start": 4856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000674923.1:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501589.1:p.Tyr1460Cys",
        "hgvsWellDefined": "ENSP00000501589.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774809",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4379A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4379A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Tyr1460Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Tyr1460Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4797,
          "referenceAllele": "A",
          "start": 4796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000303395.8:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303540.4:p.Tyr1460Cys",
        "hgvsWellDefined": "ENSP00000303540.4:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255312"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4364,
          "referenceAllele": "A",
          "start": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000375405.7:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364554.3:p.Tyr1449Cys",
        "hgvsWellDefined": "ENSP00000364554.3:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4295,
          "referenceAllele": "A",
          "start": 4294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000409050.1:c.4295A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386312.1:p.Tyr1432Cys",
        "hgvsWellDefined": "ENSP00000386312.1:p.Tyr1432Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4455,
          "referenceAllele": "A",
          "start": 4454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000423058.6:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407030.2:p.Tyr1460Cys",
        "hgvsWellDefined": "ENSP00000407030.2:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 382,
          "referenceAllele": "A",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000473295.2:n.382A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315079"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 532,
          "referenceAllele": "A",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "ENST00000491429.1:n.532A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010425",
      "coordinates": [
        {
          "allele": "G",
          "end": 4397,
          "referenceAllele": "A",
          "start": 4396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.1:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Tyr1460Cys",
        "hgvsWellDefined": "NP_001159435.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013387",
      "coordinates": [
        {
          "allele": "G",
          "end": 4313,
          "referenceAllele": "A",
          "start": 4312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.1:c.4295A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Tyr1432Cys",
        "hgvsWellDefined": "NP_001159436.1:p.Tyr1432Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259993",
      "coordinates": [
        {
          "allele": "G",
          "end": 4606,
          "referenceAllele": "A",
          "start": 4605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.1:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Tyr1460Cys",
        "hgvsWellDefined": "NP_001189364.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676029",
      "coordinates": [
        {
          "allele": "G",
          "end": 4364,
          "referenceAllele": "A",
          "start": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.4:c.4346A>G",
        "LRG_8t1:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Tyr1449Cys",
        "hgvsWellDefined": "NP_008851.3:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 175,
          "endIntronDirection": "-",
          "endIntronOffset": 17477,
          "referenceAllele": "T",
          "start": 175,
          "startIntronDirection": "-",
          "startIntronOffset": 17478
        }
      ],
      "hgvs": [
        "NR_110598.1:n.176-17478T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4563,
          "referenceAllele": "A",
          "start": 4562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511598.1:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509900.1:p.Tyr1460Cys",
        "hgvsWellDefined": "XP_011509900.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078859"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4778,
          "referenceAllele": "A",
          "start": 4777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511599.1:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509901.1:p.Tyr1460Cys",
        "hgvsWellDefined": "XP_011509901.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078860"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4654,
          "referenceAllele": "A",
          "start": 4653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511600.1:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509902.1:p.Tyr1460Cys",
        "hgvsWellDefined": "XP_011509902.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078861"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4773,
          "referenceAllele": "A",
          "start": 4772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511601.1:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509903.1:p.Tyr1460Cys",
        "hgvsWellDefined": "XP_011509903.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078862"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4686,
          "referenceAllele": "A",
          "start": 4685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511602.1:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509904.1:p.Tyr1460Cys",
        "hgvsWellDefined": "XP_011509904.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4560,
          "referenceAllele": "A",
          "start": 4559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511603.1:c.4376A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509905.1:p.Tyr1459Cys",
        "hgvsWellDefined": "XP_011509905.1:p.Tyr1459Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078864"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4530,
          "referenceAllele": "A",
          "start": 4529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511604.1:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509906.1:p.Tyr1449Cys",
        "hgvsWellDefined": "XP_011509906.1:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078865"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4527,
          "referenceAllele": "A",
          "start": 4526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511605.1:c.4343A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509907.1:p.Tyr1448Cys",
        "hgvsWellDefined": "XP_011509907.1:p.Tyr1448Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4479,
          "referenceAllele": "A",
          "start": 4478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511606.1:c.4295A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509908.1:p.Tyr1432Cys",
        "hgvsWellDefined": "XP_011509908.1:p.Tyr1432Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4281,
          "referenceAllele": "A",
          "start": 4280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XM_011511607.1:c.4097A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509909.1:p.Tyr1366Cys",
        "hgvsWellDefined": "XP_011509909.1:p.Tyr1366Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078868"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4627,
          "referenceAllele": "A",
          "start": 4626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_922981.1:n.4627A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120043"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010425",
      "coordinates": [
        {
          "allele": "G",
          "end": 4876,
          "referenceAllele": "A",
          "start": 4875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.2:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Tyr1460Cys",
        "hgvsWellDefined": "NP_001159435.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013387",
      "coordinates": [
        {
          "allele": "G",
          "end": 4705,
          "referenceAllele": "A",
          "start": 4704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.2:c.4295A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Tyr1432Cys",
        "hgvsWellDefined": "NP_001159436.1:p.Tyr1432Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511668"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259993",
      "coordinates": [
        {
          "allele": "G",
          "end": 4690,
          "referenceAllele": "A",
          "start": 4689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.2:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Tyr1460Cys",
        "hgvsWellDefined": "NP_001189364.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511850"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827753709",
      "coordinates": [
        {
          "allele": "G",
          "end": 4697,
          "referenceAllele": "A",
          "start": 4696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.1:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Tyr1460Cys",
        "hgvsWellDefined": "NP_001340877.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760269",
      "coordinates": [
        {
          "allele": "G",
          "end": 4565,
          "referenceAllele": "A",
          "start": 4564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.1:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Tyr1449Cys",
        "hgvsWellDefined": "NP_001340878.1:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522052"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827766870",
      "coordinates": [
        {
          "allele": "G",
          "end": 4657,
          "referenceAllele": "A",
          "start": 4656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.1:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Tyr1449Cys",
        "hgvsWellDefined": "NP_001340879.1:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522053"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771361",
      "coordinates": [
        {
          "allele": "G",
          "end": 4664,
          "referenceAllele": "A",
          "start": 4663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.1:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Tyr1449Cys",
        "hgvsWellDefined": "NP_001340880.1:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522054"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774351",
      "coordinates": [
        {
          "allele": "G",
          "end": 4756,
          "referenceAllele": "A",
          "start": 4755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.1:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Tyr1449Cys",
        "hgvsWellDefined": "NP_001340881.1:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777336",
      "coordinates": [
        {
          "allele": "G",
          "end": 4753,
          "referenceAllele": "A",
          "start": 4752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.1:c.4343A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Tyr1448Cys",
        "hgvsWellDefined": "NP_001340883.1:p.Tyr1448Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780322",
      "coordinates": [
        {
          "allele": "G",
          "end": 4661,
          "referenceAllele": "A",
          "start": 4660
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.1:c.4343A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Tyr1448Cys",
        "hgvsWellDefined": "NP_001340884.1:p.Tyr1448Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783296",
      "coordinates": [
        {
          "allele": "G",
          "end": 4613,
          "referenceAllele": "A",
          "start": 4612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.1:c.4295A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Tyr1432Cys",
        "hgvsWellDefined": "NP_001340886.1:p.Tyr1432Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522058"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786255",
      "coordinates": [
        {
          "allele": "G",
          "end": 4606,
          "referenceAllele": "A",
          "start": 4605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.1:c.4295A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Tyr1432Cys",
        "hgvsWellDefined": "NP_001340887.1:p.Tyr1432Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789228",
      "coordinates": [
        {
          "allele": "G",
          "end": 4702,
          "referenceAllele": "A",
          "start": 4701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.1:c.4292A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Tyr1431Cys",
        "hgvsWellDefined": "NP_001340889.1:p.Tyr1431Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741866733",
      "coordinates": [
        {
          "allele": "G",
          "end": 4772,
          "referenceAllele": "A",
          "start": 4771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.1:c.1937A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Tyr646Cys",
        "hgvsWellDefined": "NP_001340890.1:p.Tyr646Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676029",
      "coordinates": [
        {
          "allele": "G",
          "end": 4843,
          "referenceAllele": "A",
          "start": 4842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.5:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Tyr1449Cys",
        "hgvsWellDefined": "NP_008851.3:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525436"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4815,
          "referenceAllele": "A",
          "start": 4814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.1:n.4815A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531272"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4829,
          "referenceAllele": "A",
          "start": 4828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738883.1:n.4829A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4801,
          "referenceAllele": "A",
          "start": 4800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "XR_001738884.1:n.4801A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010425",
      "coordinates": [
        {
          "allele": "G",
          "end": 4857,
          "referenceAllele": "A",
          "start": 4856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.3:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Tyr1460Cys",
        "hgvsWellDefined": "NP_001159435.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678433"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826013387",
      "coordinates": [
        {
          "allele": "G",
          "end": 4686,
          "referenceAllele": "A",
          "start": 4685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165964.3:c.4295A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159436.1:p.Tyr1432Cys",
        "hgvsWellDefined": "NP_001159436.1:p.Tyr1432Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678434"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826259993",
      "coordinates": [
        {
          "allele": "G",
          "end": 4635,
          "referenceAllele": "A",
          "start": 4634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001202435.3:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001189364.1:p.Tyr1460Cys",
        "hgvsWellDefined": "NP_001189364.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679700"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827753709",
      "coordinates": [
        {
          "allele": "G",
          "end": 4678,
          "referenceAllele": "A",
          "start": 4677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353948.2:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340877.1:p.Tyr1460Cys",
        "hgvsWellDefined": "NP_001340877.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827760269",
      "coordinates": [
        {
          "allele": "G",
          "end": 4510,
          "referenceAllele": "A",
          "start": 4509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353949.2:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340878.1:p.Tyr1449Cys",
        "hgvsWellDefined": "NP_001340878.1:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827766870",
      "coordinates": [
        {
          "allele": "G",
          "end": 4602,
          "referenceAllele": "A",
          "start": 4601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353950.2:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340879.1:p.Tyr1449Cys",
        "hgvsWellDefined": "NP_001340879.1:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689998"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827771361",
      "coordinates": [
        {
          "allele": "G",
          "end": 4645,
          "referenceAllele": "A",
          "start": 4644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353951.2:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340880.1:p.Tyr1449Cys",
        "hgvsWellDefined": "NP_001340880.1:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689999"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827774351",
      "coordinates": [
        {
          "allele": "G",
          "end": 4737,
          "referenceAllele": "A",
          "start": 4736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353952.2:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340881.1:p.Tyr1449Cys",
        "hgvsWellDefined": "NP_001340881.1:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827777336",
      "coordinates": [
        {
          "allele": "G",
          "end": 4734,
          "referenceAllele": "A",
          "start": 4733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353954.2:c.4343A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340883.1:p.Tyr1448Cys",
        "hgvsWellDefined": "NP_001340883.1:p.Tyr1448Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827780322",
      "coordinates": [
        {
          "allele": "G",
          "end": 4642,
          "referenceAllele": "A",
          "start": 4641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353955.2:c.4343A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340884.1:p.Tyr1448Cys",
        "hgvsWellDefined": "NP_001340884.1:p.Tyr1448Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827783296",
      "coordinates": [
        {
          "allele": "G",
          "end": 4594,
          "referenceAllele": "A",
          "start": 4593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353957.2:c.4295A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340886.1:p.Tyr1432Cys",
        "hgvsWellDefined": "NP_001340886.1:p.Tyr1432Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827786255",
      "coordinates": [
        {
          "allele": "G",
          "end": 4551,
          "referenceAllele": "A",
          "start": 4550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353958.2:c.4295A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340887.1:p.Tyr1432Cys",
        "hgvsWellDefined": "NP_001340887.1:p.Tyr1432Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789228",
      "coordinates": [
        {
          "allele": "G",
          "end": 4683,
          "referenceAllele": "A",
          "start": 4682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353960.2:c.4292A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Tyr1431Cys",
        "hgvsWellDefined": "NP_001340889.1:p.Tyr1431Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741866733",
      "coordinates": [
        {
          "allele": "G",
          "end": 4753,
          "referenceAllele": "A",
          "start": 4752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001353961.2:c.1937A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Tyr646Cys",
        "hgvsWellDefined": "NP_001340890.1:p.Tyr646Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829676029",
      "coordinates": [
        {
          "allele": "G",
          "end": 4824,
          "referenceAllele": "A",
          "start": 4823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.4346A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Tyr1449Cys",
        "hgvsWellDefined": "NP_008851.3:p.Tyr1449Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4796,
          "referenceAllele": "A",
          "start": 4795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NR_148667.2:n.4796A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826010425",
      "coordinates": [
        {
          "allele": "G",
          "end": 4857,
          "referenceAllele": "A",
          "start": 4856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.4379A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Tyr1460Cys",
        "hgvsWellDefined": "NP_001159435.1:p.Tyr1460Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.4379A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.4379A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Tyr1460Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Tyr1460Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}