{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1988808422",
  "communityStandardTitle": [
    "NM_012193.4(FZD4):c.1005G= (p.Trp335=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80358292",
        "rs": 80358292
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 86951751,
          "referenceAllele": "C",
          "start": 86951750
        }
      ],
      "hgvs": [
        "NC_000011.10:g.86951751C=",
        "CM000673.2:g.86951751C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 86662793,
          "referenceAllele": "C",
          "start": 86662792
        }
      ],
      "hgvs": [
        "NC_000011.9:g.86662793C=",
        "CM000673.1:g.86662793C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 86340441,
          "referenceAllele": "C",
          "start": 86340440
        }
      ],
      "hgvs": [
        "NC_000011.8:g.86340441C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8641,
          "referenceAllele": "G",
          "start": 8640
        }
      ],
      "hgvs": [
        "NG_011752.1:g.8641G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001950"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1315,
          "referenceAllele": "G",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "ENST00000531380.2:c.1005G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434034.1:p.Trp335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000531380.2:c.1005G="
          },
          "RefSeq": {
            "hgvs": "NM_012193.4:c.1005G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434034.1:p.Trp335="
          },
          "RefSeq": {
            "hgvs": "NP_036325.2:p.Trp335="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1311,
          "referenceAllele": "G",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "ENST00000531380.1:c.1005G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434034.1:p.Trp335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS356481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "ENST00000532234.5:c.*744C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436676.1:n.*744C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "ENST00000533902.2:c.*466C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437268.1:n.*466C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077709522",
      "coordinates": [
        {
          "allele": "G",
          "end": 1318,
          "referenceAllele": "G",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "NM_012193.3:c.1005G="
      ],
      "proteinEffect": {
        "hgvs": "NP_036325.2:p.Trp335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1416,
          "referenceAllele": "C",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120591.1:n.1416C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120592.1:n.1165C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055469"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120591.2:n.1114C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527381"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 863,
          "referenceAllele": "C",
          "start": 862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120592.2:n.863C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077709522",
      "coordinates": [
        {
          "allele": "G",
          "end": 1315,
          "referenceAllele": "G",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004042",
      "geneNCBI_id": 8322,
      "geneSymbol": "FZD4",
      "hgvs": [
        "NM_012193.4:c.1005G="
      ],
      "proteinEffect": {
        "hgvs": "NP_036325.2:p.Trp335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667936",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000531380.2:c.1005G="
          },
          "RefSeq": {
            "hgvs": "NM_012193.4:c.1005G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000434034.1:p.Trp335="
          },
          "RefSeq": {
            "hgvs": "NP_036325.2:p.Trp335="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014370",
      "geneNCBI_id": 11098,
      "geneSymbol": "PRSS23",
      "hgvs": [
        "NR_120591.3:n.1114C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730739"
    }
  ],
  "type": "nucleotide"
}