{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2034902105",
  "communityStandardTitle": [
    "NM_005430.4(WNT1):c.1063G= (p.Val355=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907358",
        "rs": 387907358
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 48981590,
          "referenceAllele": "G",
          "start": 48981589
        }
      ],
      "hgvs": [
        "NC_000012.12:g.48981590G=",
        "CM000674.2:g.48981590G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 49375373,
          "referenceAllele": "G",
          "start": 49375372
        }
      ],
      "hgvs": [
        "NC_000012.11:g.49375373G=",
        "CM000674.1:g.49375373G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "G",
          "end": 47661640,
          "referenceAllele": "G",
          "start": 47661639
        }
      ],
      "hgvs": [
        "NC_000012.10:g.47661640G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8138,
          "referenceAllele": "G",
          "start": 8137
        }
      ],
      "hgvs": [
        "NG_033141.1:g.8138G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005453"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1392,
          "referenceAllele": "G",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012774",
      "geneNCBI_id": 7471,
      "geneSymbol": "WNT1",
      "hgvs": [
        "ENST00000293549.4:c.1063G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293549.3:p.Val355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293549.4:c.1063G="
          },
          "RefSeq": {
            "hgvs": "NM_005430.4:c.1063G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293549.3:p.Val355="
          },
          "RefSeq": {
            "hgvs": "NP_005421.1:p.Val355="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1099,
          "referenceAllele": "G",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012774",
      "geneNCBI_id": 7471,
      "geneSymbol": "WNT1",
      "hgvs": [
        "ENST00000293549.3:c.1063G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000293549.3:p.Val355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253889"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012774",
      "geneNCBI_id": 7471,
      "geneSymbol": "WNT1",
      "hgvs": [
        "ENST00000613114.4:c.1030G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481240.1:p.Val344="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079399951",
      "coordinates": [
        {
          "allele": "G",
          "end": 1261,
          "referenceAllele": "G",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012774",
      "geneNCBI_id": 7471,
      "geneSymbol": "WNT1",
      "hgvs": [
        "NM_005430.3:c.1063G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005421.1:p.Val355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030526"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3079399951",
      "coordinates": [
        {
          "allele": "G",
          "end": 1392,
          "referenceAllele": "G",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012774",
      "geneNCBI_id": 7471,
      "geneSymbol": "WNT1",
      "hgvs": [
        "NM_005430.4:c.1063G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005421.1:p.Val355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696418",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000293549.4:c.1063G="
          },
          "RefSeq": {
            "hgvs": "NM_005430.4:c.1063G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000293549.3:p.Val355="
          },
          "RefSeq": {
            "hgvs": "NP_005421.1:p.Val355="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}