{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338370",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.1809C>T (p.Arg603=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=288037",
        "active": true,
        "id": "COSM288037"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=288038",
        "active": true,
        "id": "COSM288038"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=288039",
        "active": true,
        "id": "COSM288039"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=288040",
        "active": true,
        "id": "COSM288040"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212733[alleleid]",
        "alleleId": 212733,
        "preferredName": "NM_000264.5(PTCH1):c.1809C>T (p.Arg603=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/215456",
        "RCV": [
          "RCV000199059",
          "RCV000569655",
          "RCV002503775"
        ],
        "variationId": 215456
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-98232133-G-A",
        "id": "9-98232133-G-A",
        "variant": "9:98232133 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98232133G>A?assembly=hg19",
        "id": "chr9:g.98232133G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95469851G>A?assembly=hg38",
        "id": "chr9:g.95469851G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145690756",
        "rs": 145690756
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98232133-G-A?dataset=gnomad_r2_1",
        "id": "9-98232133-G-A",
        "variant": "9:98232133 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95469851-G-A?dataset=gnomad_r3",
        "id": "9-95469851-G-A",
        "variant": "9:95469851 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95469851-G-A?dataset=gnomad_r4",
        "id": "9-95469851-G-A",
        "variant": "9:95469851 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 95469851,
          "referenceAllele": "G",
          "start": 95469850
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95469851G>A",
        "CM000671.2:g.95469851G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 98232133,
          "referenceAllele": "G",
          "start": 98232132
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98232133G>A",
        "CM000671.1:g.98232133G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 97271954,
          "referenceAllele": "G",
          "start": 97271953
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97271954G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 52115,
          "referenceAllele": "C",
          "start": 52114
        }
      ],
      "hgvs": [
        "NG_007664.1:g.52115C>T",
        "LRG_515:g.52115C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2111,
          "referenceAllele": "C",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.1611C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Arg537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1957,
          "referenceAllele": "C",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.1806C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Arg602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.1806C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.1806C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Arg602="
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Arg602="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1632,
          "referenceAllele": "C",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*117C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*117C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1497,
          "referenceAllele": "C",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2714,
          "referenceAllele": "C",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.1809C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Arg603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.1809C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.1809C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Arg603="
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Arg603="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2109,
          "referenceAllele": "C",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.1809C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Arg603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 804,
          "referenceAllele": "C",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375271.4:c.804C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364420.4:p.Arg268="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.1806C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Arg602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1578,
          "referenceAllele": "C",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.1578C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.1578C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1871,
          "referenceAllele": "C",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1715,
          "referenceAllele": "C",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1797,
          "referenceAllele": "C",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2197,
          "referenceAllele": "C",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.1611C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Arg537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "C",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.1611C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Arg537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825120732",
      "coordinates": [
        {
          "allele": "T",
          "end": 1997,
          "referenceAllele": "C",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.1809C>T",
        "LRG_515t1:c.1809C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Arg603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825486885",
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "C",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.1611C>T",
        "LRG_515t2:c.1611C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Arg537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825494615",
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.1806C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Arg602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825501754",
      "coordinates": [
        {
          "allele": "T",
          "end": 1715,
          "referenceAllele": "C",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506708",
      "coordinates": [
        {
          "allele": "T",
          "end": 1698,
          "referenceAllele": "C",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509706",
      "coordinates": [
        {
          "allele": "T",
          "end": 1797,
          "referenceAllele": "C",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512576",
      "coordinates": [
        {
          "allele": "T",
          "end": 1871,
          "referenceAllele": "C",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1789,
          "referenceAllele": "G",
          "start": 1788
        }
      ],
      "hgvs": [
        "NR_038982.1:n.1789G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050659"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1555,
          "referenceAllele": "C",
          "start": 1554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1853,
          "referenceAllele": "C",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.1653C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Arg551="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "C",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1479,
          "referenceAllele": "C",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "C",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1256,
          "referenceAllele": "C",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.969C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Arg323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2009,
          "referenceAllele": "C",
          "start": 2008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.1809C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Arg603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825120732",
      "coordinates": [
        {
          "allele": "T",
          "end": 1997,
          "referenceAllele": "C",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.1809C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Arg603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825486885",
      "coordinates": [
        {
          "allele": "T",
          "end": 2197,
          "referenceAllele": "C",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.1611C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Arg537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825494615",
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.1806C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Arg602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825501754",
      "coordinates": [
        {
          "allele": "T",
          "end": 1715,
          "referenceAllele": "C",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506708",
      "coordinates": [
        {
          "allele": "T",
          "end": 1698,
          "referenceAllele": "C",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509706",
      "coordinates": [
        {
          "allele": "T",
          "end": 1797,
          "referenceAllele": "C",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512576",
      "coordinates": [
        {
          "allele": "T",
          "end": 1871,
          "referenceAllele": "C",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828032684",
      "coordinates": [
        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "C",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.1653C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Arg551="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1997,
          "referenceAllele": "C",
          "start": 1996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.1997C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825120732",
      "coordinates": [
        {
          "allele": "T",
          "end": 2714,
          "referenceAllele": "C",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.1809C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Arg603="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.1809C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.1809C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Arg603="
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Arg603="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509706",
      "coordinates": [
        {
          "allele": "T",
          "end": 1807,
          "referenceAllele": "C",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828032684",
      "coordinates": [
        {
          "allele": "T",
          "end": 2558,
          "referenceAllele": "C",
          "start": 2557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.1653C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Arg551="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2714,
          "referenceAllele": "C",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.2714C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825486885",
      "coordinates": [
        {
          "allele": "T",
          "end": 2111,
          "referenceAllele": "C",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.1611C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Arg537="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825494615",
      "coordinates": [
        {
          "allele": "T",
          "end": 1957,
          "referenceAllele": "C",
          "start": 1956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.1806C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Arg602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.1806C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.1806C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Arg602="
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Arg602="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825501754",
      "coordinates": [
        {
          "allele": "T",
          "end": 1715,
          "referenceAllele": "C",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506708",
      "coordinates": [
        {
          "allele": "T",
          "end": 1698,
          "referenceAllele": "C",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512576",
      "coordinates": [
        {
          "allele": "T",
          "end": 1871,
          "referenceAllele": "C",
          "start": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Arg452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}