{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8709879",
  "communityStandardTitle": [
    "NM_000334.4(SCN4A):c.1281C>T (p.Phe427=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4463222"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=339684[alleleid]",
        "alleleId": 339684,
        "preferredName": "NM_000334.4(SCN4A):c.1281C>T (p.Phe427=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/324545",
        "RCV": [
          "RCV000260665",
          "RCV000275835",
          "RCV000333499",
          "RCV000353266",
          "RCV000517185",
          "RCV000529325"
        ],
        "variationId": 324545
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-62041999-G-A",
        "id": "17-62041999-G-A",
        "variant": "17:62041999 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.62041999G>A?assembly=hg19",
        "id": "chr17:g.62041999G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.63964639G>A?assembly=hg38",
        "id": "chr17:g.63964639G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369445518",
        "rs": 369445518
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-62041999-G-A?dataset=gnomad_r2_1",
        "id": "17-62041999-G-A",
        "variant": "17:62041999 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-63964639-G-A?dataset=gnomad_r3",
        "id": "17-63964639-G-A",
        "variant": "17:63964639 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-63964639-G-A?dataset=gnomad_r4",
        "id": "17-63964639-G-A",
        "variant": "17:63964639 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 63964639,
          "referenceAllele": "G",
          "start": 63964638
        }
      ],
      "hgvs": [
        "NC_000017.11:g.63964639G>A",
        "CM000679.2:g.63964639G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 62041999,
          "referenceAllele": "G",
          "start": 62041998
        }
      ],
      "hgvs": [
        "NC_000017.10:g.62041999G>A",
        "CM000679.1:g.62041999G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 59395731,
          "referenceAllele": "G",
          "start": 59395730
        }
      ],
      "hgvs": [
        "NC_000017.9:g.59395731G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13280,
          "referenceAllele": "C",
          "start": 13279
        }
      ],
      "hgvs": [
        "NG_011699.1:g.13280C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001908"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1358,
          "referenceAllele": "C",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "ENST00000435607.3:c.1281C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396320.1:p.Phe427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293592",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000435607.3:c.1281C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000334.4:c.1281C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000396320.1:p.Phe427="
          },
          "RefSeq": {
            "hgvs": "NP_000325.4:p.Phe427="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1358,
          "referenceAllele": "C",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "ENST00000578147.5:c.1281C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463963.1:p.Phe427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825126617",
      "coordinates": [
        {
          "allele": "T",
          "end": 1358,
          "referenceAllele": "C",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "NM_000334.4:c.1281C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000325.4:p.Phe427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006397",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000435607.3:c.1281C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000334.4:c.1281C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000396320.1:p.Phe427="
          },
          "RefSeq": {
            "hgvs": "NP_000325.4:p.Phe427="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2453,
          "referenceAllele": "C",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "XM_005257566.3:c.1281C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257623.1:p.Phe427="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 265,
          "referenceAllele": "G",
          "start": 264
        }
      ],
      "hgvs": [
        "XR_934910.1:n.265G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS130198"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1542,
          "referenceAllele": "G",
          "start": 1541
        }
      ],
      "hgvs": [
        "XR_001752969.1:n.1542G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599601"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "hgvs": [
        "XR_001752970.1:n.494G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599602"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1417,
          "referenceAllele": "G",
          "start": 1416
        }
      ],
      "hgvs": [
        "XR_934910.2:n.1417G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610820"
    }
  ],
  "type": "nucleotide"
}