{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1142305986",
  "communityStandardTitle": [
    "NM_002016.2(FLG):c.9947C= (p.Ser3316=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/149484917",
        "rs": 149484917
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 152304939,
          "referenceAllele": "G",
          "start": 152304938
        }
      ],
      "hgvs": [
        "NC_000001.11:g.152304939G=",
        "CM000663.2:g.152304939G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 152277415,
          "referenceAllele": "G",
          "start": 152277414
        }
      ],
      "hgvs": [
        "NC_000001.10:g.152277415G=",
        "CM000663.1:g.152277415G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 150544039,
          "referenceAllele": "G",
          "start": 150544038
        }
      ],
      "hgvs": [
        "NC_000001.9:g.150544039G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25265,
          "referenceAllele": "C",
          "start": 25264
        }
      ],
      "hgvs": [
        "NG_016190.1:g.25265C=",
        "LRG_1028:g.25265C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002996"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10019,
          "referenceAllele": "C",
          "start": 10018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "ENST00000368799.2:c.9947C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357789.1:p.Ser3316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368799.2:c.9947C="
          },
          "RefSeq": {
            "hgvs": "NM_002016.2:c.9947C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357789.1:p.Ser3316="
          },
          "RefSeq": {
            "hgvs": "NP_002007.1:p.Ser3316="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9983,
          "referenceAllele": "C",
          "start": 9982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "ENST00000368799.1:c.9947C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000357789.1:p.Ser3316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267184"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063981169",
      "coordinates": [
        {
          "allele": "C",
          "end": 9983,
          "referenceAllele": "C",
          "start": 9982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "NM_002016.1:c.9947C=",
        "LRG_1028t1:c.9947C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002007.1:p.Ser3316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027341"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9198,
          "endIntronDirection": "+",
          "endIntronOffset": 839,
          "referenceAllele": "C",
          "start": 9198,
          "startIntronDirection": "+",
          "startIntronOffset": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "XM_011509329.1:c.9108+839C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507631.1:n.9108+839C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076597"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063981169",
      "coordinates": [
        {
          "allele": "C",
          "end": 10019,
          "referenceAllele": "C",
          "start": 10018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003748",
      "geneNCBI_id": 2312,
      "geneSymbol": "FLG",
      "hgvs": [
        "NM_002016.2:c.9947C="
      ],
      "proteinEffect": {
        "hgvs": "NP_002007.1:p.Ser3316="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695431",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368799.2:c.9947C="
          },
          "RefSeq": {
            "hgvs": "NM_002016.2:c.9947C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357789.1:p.Ser3316="
          },
          "RefSeq": {
            "hgvs": "NP_002007.1:p.Ser3316="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}