{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2461408636",
  "communityStandardTitle": [
    "NM_000133.4(F9):c.679G= (p.Val227=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852242",
        "rs": 137852242
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 139551220,
          "referenceAllele": "G",
          "start": 139551219
        }
      ],
      "hgvs": [
        "NC_000023.11:g.139551220G=",
        "CM000685.2:g.139551220G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 138633379,
          "referenceAllele": "G",
          "start": 138633378
        }
      ],
      "hgvs": [
        "NC_000023.10:g.138633379G=",
        "CM000685.1:g.138633379G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 138461045,
          "referenceAllele": "G",
          "start": 138461044
        }
      ],
      "hgvs": [
        "NC_000023.9:g.138461045G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 25485,
          "referenceAllele": "G",
          "start": 25484
        }
      ],
      "hgvs": [
        "NG_007994.1:g.25485G=",
        "LRG_556:g.25485G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000761"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.7:c.679G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Val227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.679G="
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.679G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Val227="
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Val227="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1346,
          "referenceAllele": "G",
          "start": 1345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000643157.1:n.1346G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767123"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "G",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000218099.6:c.679G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218099.2:p.Val227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "referenceAllele": "G",
          "start": 564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "ENST00000394090.2:c.565G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377650.2:p.Val189="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275974"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3051403393",
      "coordinates": [
        {
          "allele": "G",
          "end": 708,
          "referenceAllele": "G",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.3:c.679G=",
        "LRG_556t1:c.679G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Val227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.1:c.565G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.Val189="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026483"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 581,
          "referenceAllele": "G",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.3:c.550G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 595,
          "referenceAllele": "G",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "XM_005262397.4:c.550G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005262454.1:p.Val184="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3051403393",
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_000133.4:c.679G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000124.1:p.Val227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000218099.7:c.679G="
          },
          "RefSeq": {
            "hgvs": "NM_000133.4:c.679G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000218099.2:p.Val227="
          },
          "RefSeq": {
            "hgvs": "NP_000124.1:p.Val227="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003551",
      "geneNCBI_id": 2158,
      "geneSymbol": "F9",
      "hgvs": [
        "NM_001313913.2:c.565G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001300842.1:p.Val189="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717328"
    }
  ],
  "type": "nucleotide"
}