{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA108774405",
  "communityStandardTitle": [
    "NM_021870.3(FGG):c.1201C>T (p.Arg401Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2737578[alleleid]",
        "alleleId": 2737578,
        "preferredName": "NM_021870.3(FGG):c.1201C>T (p.Arg401Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2572634",
        "RCV": [
          "RCV003314519"
        ],
        "variationId": 2572634
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.155526147G>A?assembly=hg19",
        "id": "chr4:g.155526147G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.154604995G>A?assembly=hg38",
        "id": "chr4:g.154604995G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/75848804",
        "rs": 75848804
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-154604995-G-A?dataset=gnomad_r4",
        "id": "4-154604995-G-A",
        "variant": "4:154604995 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 154604995,
          "referenceAllele": "G",
          "start": 154604994
        }
      ],
      "hgvs": [
        "NC_000004.12:g.154604995G>A",
        "CM000666.2:g.154604995G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 155526147,
          "referenceAllele": "G",
          "start": 155526146
        }
      ],
      "hgvs": [
        "NC_000004.11:g.155526147G>A",
        "CM000666.1:g.155526147G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 155745597,
          "referenceAllele": "G",
          "start": 155745596
        }
      ],
      "hgvs": [
        "NC_000004.10:g.155745597G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12756,
          "referenceAllele": "C",
          "start": 12755
        }
      ],
      "hgvs": [
        "NG_008834.1:g.12756C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001229"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1248,
          "referenceAllele": "C",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000336098.8:c.1201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336829.3:p.Arg401Trp",
        "hgvsWellDefined": "ENSP00000336829.3:p.Arg401Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747549",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336098.8:c.1201C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021870.3:c.1201C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336829.3:p.Arg401Trp"
          },
          "RefSeq": {
            "hgvs": "NP_068656.2:p.Arg401Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1240,
          "referenceAllele": "C",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000336098.7:c.1201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336829.3:p.Arg401Trp",
        "hgvsWellDefined": "ENSP00000336829.3:p.Arg401Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1441,
          "referenceAllele": "C",
          "start": 1440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000404648.7:c.1201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384860.3:p.Arg401Trp",
        "hgvsWellDefined": "ENSP00000384860.3:p.Arg401Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000405164.5:c.1225C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384101.1:p.Arg409Trp",
        "hgvsWellDefined": "ENSP00000384101.1:p.Arg409Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1251,
          "referenceAllele": "C",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000407946.5:c.1225C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384552.1:p.Arg409Trp",
        "hgvsWellDefined": "ENSP00000384552.1:p.Arg409Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 749,
          "referenceAllele": "C",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000465913.1:n.749C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1743,
          "referenceAllele": "C",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "ENST00000492082.5:n.1743C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204107",
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "NM_000509.4:c.1201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000500.2:p.Arg401Trp",
        "hgvsWellDefined": "NP_000500.2:p.Arg401Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006564"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204107",
      "coordinates": [
        {
          "allele": "T",
          "end": 1400,
          "referenceAllele": "C",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "NM_000509.5:c.1201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000500.2:p.Arg401Trp",
        "hgvsWellDefined": "NP_000500.2:p.Arg401Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109157",
      "coordinates": [
        {
          "allele": "T",
          "end": 1342,
          "referenceAllele": "C",
          "start": 1341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "NM_021870.2:c.1201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068656.2:p.Arg401Trp",
        "hgvsWellDefined": "NP_068656.2:p.Arg401Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA109157",
      "coordinates": [
        {
          "allele": "T",
          "end": 1248,
          "referenceAllele": "C",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "NM_021870.3:c.1201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_068656.2:p.Arg401Trp",
        "hgvsWellDefined": "NP_068656.2:p.Arg401Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698457",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000336098.8:c.1201C>T"
          },
          "RefSeq": {
            "hgvs": "NM_021870.3:c.1201C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000336829.3:p.Arg401Trp"
          },
          "RefSeq": {
            "hgvs": "NP_068656.2:p.Arg401Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204107",
      "coordinates": [
        {
          "allele": "T",
          "end": 1248,
          "referenceAllele": "C",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003694",
      "geneNCBI_id": 2266,
      "geneSymbol": "FGG",
      "hgvs": [
        "NM_000509.6:c.1201C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000500.2:p.Arg401Trp",
        "hgvsWellDefined": "NP_000500.2:p.Arg401Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710840"
    }
  ],
  "type": "nucleotide"
}