{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2270162658",
  "communityStandardTitle": [
    "NM_000334.4(SCN4A):c.3877G= (p.Val1293=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908551",
        "rs": 121908551
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 63944708,
          "referenceAllele": "C",
          "start": 63944707
        }
      ],
      "hgvs": [
        "NC_000017.11:g.63944708C=",
        "CM000679.2:g.63944708C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 62022068,
          "referenceAllele": "C",
          "start": 62022067
        }
      ],
      "hgvs": [
        "NC_000017.10:g.62022068C=",
        "CM000679.1:g.62022068C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 59375800,
          "referenceAllele": "C",
          "start": 59375799
        }
      ],
      "hgvs": [
        "NC_000017.9:g.59375800C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 33211,
          "referenceAllele": "G",
          "start": 33210
        }
      ],
      "hgvs": [
        "NG_011699.1:g.33211G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001908"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3954,
          "referenceAllele": "G",
          "start": 3953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "ENST00000435607.3:c.3877G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396320.1:p.Val1293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293592",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000435607.3:c.3877G="
          },
          "RefSeq": {
            "hgvs": "NM_000334.4:c.3877G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000396320.1:p.Val1293="
          },
          "RefSeq": {
            "hgvs": "NP_000325.4:p.Val1293="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3954,
          "referenceAllele": "G",
          "start": 3953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "ENST00000578147.5:c.3877G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463963.1:p.Val1293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3083973693",
      "coordinates": [
        {
          "allele": "G",
          "end": 3954,
          "referenceAllele": "G",
          "start": 3953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "NM_000334.4:c.3877G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000325.4:p.Val1293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006397",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000435607.3:c.3877G="
          },
          "RefSeq": {
            "hgvs": "NM_000334.4:c.3877G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000396320.1:p.Val1293="
          },
          "RefSeq": {
            "hgvs": "NP_000325.4:p.Val1293="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5049,
          "referenceAllele": "G",
          "start": 5048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "XM_005257566.3:c.3877G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005257623.1:p.Val1293="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061757"
    }
  ],
  "type": "nucleotide"
}