{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2435979579",
  "communityStandardTitle": [
    "NM_001399.5(EDA):c.607C= (p.Pro203=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397516671",
        "rs": 397516671
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 70027937,
          "referenceAllele": "C",
          "start": 70027936
        }
      ],
      "hgvs": [
        "NC_000023.11:g.70027937C=",
        "CM000685.2:g.70027937C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 69247787,
          "referenceAllele": "C",
          "start": 69247786
        }
      ],
      "hgvs": [
        "NC_000023.10:g.69247787C=",
        "CM000685.1:g.69247787C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 69164512,
          "referenceAllele": "C",
          "start": 69164511
        }
      ],
      "hgvs": [
        "NC_000023.9:g.69164512C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 416877,
          "referenceAllele": "C",
          "start": 416876
        }
      ],
      "hgvs": [
        "NG_009809.1:g.416877C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001649"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 416871,
          "referenceAllele": "C",
          "start": 416870
        }
      ],
      "hgvs": [
        "NG_009809.2:g.416871C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616133"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000374552.9:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363680.4:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751457",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374552.9:c.607C="
          },
          "RefSeq": {
            "hgvs": "NM_001399.5:c.607C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363680.4:p.Pro203="
          },
          "RefSeq": {
            "hgvs": "NP_001390.1:p.Pro203="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000374552.8:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363680.4:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000374553.6:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363681.2:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 358,
          "referenceAllele": "C",
          "start": 357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000503592.5:c.211C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423037.1:p.Pro71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000524573.5:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432585.1:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 214,
          "referenceAllele": "C",
          "start": 213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "ENST00000616899.1:c.211C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481963.1:p.Pro71="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005609.1:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005609.1:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005612.2:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005612.2:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063243623",
      "coordinates": [
        {
          "allele": "C",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001399.4:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001390.1:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "referenceAllele": "C",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_006724630.2:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724693.1:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075630"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "referenceAllele": "C",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_011530885.1:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529187.1:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS097926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "referenceAllele": "C",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_011530885.2:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011529187.1:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 830,
          "referenceAllele": "C",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "XM_017029336.1:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016884825.1:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063243623",
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001399.5:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001390.1:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664968",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374552.9:c.607C="
          },
          "RefSeq": {
            "hgvs": "NM_001399.5:c.607C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363680.4:p.Pro203="
          },
          "RefSeq": {
            "hgvs": "NP_001390.1:p.Pro203="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005609.2:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005609.1:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675202"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003157",
      "geneNCBI_id": 1896,
      "geneSymbol": "EDA",
      "hgvs": [
        "NM_001005612.3:c.607C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005612.2:p.Pro203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675204"
    }
  ],
  "type": "nucleotide"
}