{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374116869",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.508C>G (p.Leu170Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=822032[alleleid]",
        "alleleId": 822032,
        "preferredName": "NM_000264.5(PTCH1):c.508C>G (p.Leu170Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/833676",
        "RCV": [
          "RCV001034149",
          "RCV001772207",
          "RCV002346234"
        ],
        "variationId": 833676
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98248043G>C?assembly=hg19",
        "id": "chr9:g.98248043G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95485761G>C?assembly=hg38",
        "id": "chr9:g.95485761G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1841917213",
        "rs": 1841917213
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95485761-G-C?dataset=gnomad_r4",
        "id": "9-95485761-G-C",
        "variant": "9:95485761 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 95485761,
          "referenceAllele": "G",
          "start": 95485760
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95485761G>C",
        "CM000671.2:g.95485761G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 98248043,
          "referenceAllele": "G",
          "start": 98248042
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98248043G>C",
        "CM000671.1:g.98248043G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 97287864,
          "referenceAllele": "G",
          "start": 97287863
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97287864G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 36205,
          "referenceAllele": "C",
          "start": 36204
        }
      ],
      "hgvs": [
        "NG_007664.1:g.36205C>G",
        "LRG_515:g.36205C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.310C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Leu104Val",
        "hgvsWellDefined": "ENSP00000518556.1:p.Leu104Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.505C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Leu169Val",
        "hgvsWellDefined": "ENSP00000389744.2:p.Leu169Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.505C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.505C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Leu169Val"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Leu169Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 199,
          "referenceAllele": "C",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:p.Leu19Val",
        "hgvsWellDefined": "ENSP00000509379.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "referenceAllele": "C",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Leu19Val",
        "hgvsWellDefined": "ENSP00000510238.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.508C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Leu170Val",
        "hgvsWellDefined": "ENSP00000332353.6:p.Leu170Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.508C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.508C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Leu170Val"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Leu170Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 808,
          "referenceAllele": "C",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.508C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Leu170Val",
        "hgvsWellDefined": "ENSP00000332353.6:p.Leu170Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.505C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Leu169Val",
        "hgvsWellDefined": "ENSP00000364423.2:p.Leu169Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 307,
          "referenceAllele": "C",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.307C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:p.Leu103Val",
        "hgvsWellDefined": "ENSP00000364439.2:p.Leu103Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Leu19Val",
        "hgvsWellDefined": "ENSP00000396135.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Leu19Val",
        "hgvsWellDefined": "ENSP00000399981.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 496,
          "referenceAllele": "C",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Leu19Val",
        "hgvsWellDefined": "ENSP00000414823.2:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.310C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Leu104Val",
        "hgvsWellDefined": "ENSP00000410287.2:p.Leu104Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 804,
          "referenceAllele": "C",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.310C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Leu104Val",
        "hgvsWellDefined": "ENSP00000389744.1:p.Leu104Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000468211.6:c.310C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449745.1:p.Leu104Val",
        "hgvsWellDefined": "ENSP00000449745.1:p.Leu104Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "referenceAllele": "C",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000546820.5:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448843.1:p.Leu19Val",
        "hgvsWellDefined": "ENSP00000448843.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365896"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000547672.5:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447878.1:p.Leu19Val",
        "hgvsWellDefined": "ENSP00000447878.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 161,
          "referenceAllele": "C",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000548379.5:n.161C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS366825"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 259,
          "endIntronDirection": "-",
          "endIntronOffset": 5172,
          "referenceAllele": "C",
          "start": 259,
          "startIntronDirection": "-",
          "startIntronOffset": 5173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000548420.1:c.-94-5173C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449078.1:n.-94-5173C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366846"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 193,
          "endIntronDirection": "-",
          "endIntronOffset": 5172,
          "referenceAllele": "C",
          "start": 193,
          "startIntronDirection": "-",
          "startIntronOffset": 5173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000548945.6:n.194-5173C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 307,
          "referenceAllele": "C",
          "start": 306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000550914.6:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450047.1:p.Leu19Val",
        "hgvsWellDefined": "ENSP00000450047.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 150,
          "referenceAllele": "C",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000551623.1:c.150C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447242.1:n.150C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368770"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 318,
          "referenceAllele": "C",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000551630.1:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450131.1:p.Leu19Val",
        "hgvsWellDefined": "ENSP00000450131.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368774"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000551845.5:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447008.1:p.Leu19Val",
        "hgvsWellDefined": "ENSP00000447008.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS368908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000553011.5:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447797.1:p.Leu19Val",
        "hgvsWellDefined": "ENSP00000447797.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369582"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 254,
          "referenceAllele": "C",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000553256.5:n.254C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369717"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825119090",
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.508C>G",
        "LRG_515t1:c.508C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Leu170Val",
        "hgvsWellDefined": "NP_000255.2:p.Leu170Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487888",
      "coordinates": [
        {
          "allele": "G",
          "end": 804,
          "referenceAllele": "C",
          "start": 803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.310C>G",
        "LRG_515t2:c.310C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Leu104Val",
        "hgvsWellDefined": "NP_001077071.1:p.Leu104Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825492084",
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.505C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Leu169Val",
        "hgvsWellDefined": "NP_001077072.1:p.Leu169Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825499367",
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Leu19Val",
        "hgvsWellDefined": "NP_001077073.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505779",
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "referenceAllele": "C",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Leu19Val",
        "hgvsWellDefined": "NP_001077074.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508776",
      "coordinates": [
        {
          "allele": "G",
          "end": 496,
          "referenceAllele": "C",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Leu19Val",
        "hgvsWellDefined": "NP_001077075.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139678118",
      "coordinates": [
        {
          "allele": "G",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Leu19Val",
        "hgvsWellDefined": "NP_001077076.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 254,
          "referenceAllele": "C",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Leu19Val",
        "hgvsWellDefined": "XP_005252159.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 708,
          "referenceAllele": "C",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.508C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Leu170Val",
        "hgvsWellDefined": "XP_011517170.1:p.Leu170Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 203,
          "referenceAllele": "C",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Leu19Val",
        "hgvsWellDefined": "XP_011517171.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 191,
          "referenceAllele": "C",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Leu19Val",
        "hgvsWellDefined": "XP_011517172.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "referenceAllele": "C",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Leu19Val",
        "hgvsWellDefined": "XP_011517173.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 161,
          "referenceAllele": "C",
          "start": 160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Leu19Val",
        "hgvsWellDefined": "XP_011517174.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 193,
          "endIntronDirection": "-",
          "endIntronOffset": 5172,
          "referenceAllele": "C",
          "start": 193,
          "startIntronDirection": "-",
          "startIntronOffset": 5173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.-94-5173C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:n.-94-5173C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 708,
          "referenceAllele": "C",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.508C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Leu170Val",
        "hgvsWellDefined": "XP_011517176.1:p.Leu170Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825119090",
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.508C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Leu170Val",
        "hgvsWellDefined": "NP_000255.2:p.Leu170Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487888",
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.310C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Leu104Val",
        "hgvsWellDefined": "NP_001077071.1:p.Leu104Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825492084",
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.505C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Leu169Val",
        "hgvsWellDefined": "NP_001077072.1:p.Leu169Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825499367",
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Leu19Val",
        "hgvsWellDefined": "NP_001077073.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505779",
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "referenceAllele": "C",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Leu19Val",
        "hgvsWellDefined": "NP_001077074.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508776",
      "coordinates": [
        {
          "allele": "G",
          "end": 496,
          "referenceAllele": "C",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Leu19Val",
        "hgvsWellDefined": "NP_001077075.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139678118",
      "coordinates": [
        {
          "allele": "G",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Leu19Val",
        "hgvsWellDefined": "NP_001077076.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828031534",
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.508C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Leu170Val",
        "hgvsWellDefined": "NP_001341847.1:p.Leu170Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828036466",
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354919.1:c.310C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341848.1:p.Leu104Val",
        "hgvsWellDefined": "NP_001341848.1:p.Leu104Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522748"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.696C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825119090",
      "coordinates": [
        {
          "allele": "G",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.508C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Leu170Val",
        "hgvsWellDefined": "NP_000255.2:p.Leu170Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.508C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.508C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Leu170Val"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Leu170Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508776",
      "coordinates": [
        {
          "allele": "G",
          "end": 506,
          "referenceAllele": "C",
          "start": 505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Leu19Val",
        "hgvsWellDefined": "NP_001077075.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828031534",
      "coordinates": [
        {
          "allele": "G",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.508C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Leu170Val",
        "hgvsWellDefined": "NP_001341847.1:p.Leu170Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1413,
          "referenceAllele": "C",
          "start": 1412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.1413C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487888",
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.310C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Leu104Val",
        "hgvsWellDefined": "NP_001077071.1:p.Leu104Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825492084",
      "coordinates": [
        {
          "allele": "G",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.505C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Leu169Val",
        "hgvsWellDefined": "NP_001077072.1:p.Leu169Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.505C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.505C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Leu169Val"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Leu169Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825499367",
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "C",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Leu19Val",
        "hgvsWellDefined": "NP_001077073.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825505779",
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "referenceAllele": "C",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Leu19Val",
        "hgvsWellDefined": "NP_001077074.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139678118",
      "coordinates": [
        {
          "allele": "G",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.55C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Leu19Val",
        "hgvsWellDefined": "NP_001077076.1:p.Leu19Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828036466",
      "coordinates": [
        {
          "allele": "G",
          "end": 810,
          "referenceAllele": "C",
          "start": 809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354919.2:c.310C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341848.1:p.Leu104Val",
        "hgvsWellDefined": "NP_001341848.1:p.Leu104Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720583"
    }
  ],
  "type": "nucleotide"
}