{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374111741",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=420463[alleleid]",
        "alleleId": 420463,
        "preferredName": "NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/428842",
        "RCV": [
          "RCV000492191",
          "RCV001036728"
        ],
        "variationId": 428842
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98215805A>G?assembly=hg19",
        "id": "chr9:g.98215805A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95453523A>G?assembly=hg38",
        "id": "chr9:g.95453523A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1131690989",
        "rs": 1131690989
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 95453523,
          "referenceAllele": "A",
          "start": 95453522
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95453523A>G",
        "CM000671.2:g.95453523A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 98215805,
          "referenceAllele": "A",
          "start": 98215804
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98215805A>G",
        "CM000671.1:g.98215805A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 97255626,
          "referenceAllele": "A",
          "start": 97255625
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97255626A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 68443,
          "referenceAllele": "T",
          "start": 68442
        }
      ],
      "hgvs": [
        "NG_007664.1:g.68443T>C",
        "LRG_515:g.68443T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3706,
          "referenceAllele": "T",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.3206T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Leu1069Pro",
        "hgvsWellDefined": "ENSP00000518556.1:p.Leu1069Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3552,
          "referenceAllele": "T",
          "start": 3551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.3401T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Leu1134Pro",
        "hgvsWellDefined": "ENSP00000389744.2:p.Leu1134Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3401T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3401T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Leu1134Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Leu1134Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3227,
          "referenceAllele": "T",
          "start": 3226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*1712T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*1712T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3092,
          "referenceAllele": "T",
          "start": 3091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Leu984Pro",
        "hgvsWellDefined": "ENSP00000510238.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 735,
          "referenceAllele": "T",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.735T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4309,
          "referenceAllele": "T",
          "start": 4308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.3404T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Leu1135Pro",
        "hgvsWellDefined": "ENSP00000332353.6:p.Leu1135Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3404T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3404T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Leu1135Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Leu1135Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3704,
          "referenceAllele": "T",
          "start": 3703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.3404T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Leu1135Pro",
        "hgvsWellDefined": "ENSP00000332353.6:p.Leu1135Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3546,
          "referenceAllele": "T",
          "start": 3545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.3401T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Leu1134Pro",
        "hgvsWellDefined": "ENSP00000364423.2:p.Leu1134Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3173,
          "referenceAllele": "T",
          "start": 3172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.3173T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.3173T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3466,
          "referenceAllele": "T",
          "start": 3465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Leu984Pro",
        "hgvsWellDefined": "ENSP00000396135.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3310,
          "referenceAllele": "T",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Leu984Pro",
        "hgvsWellDefined": "ENSP00000399981.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3392,
          "referenceAllele": "T",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Leu984Pro",
        "hgvsWellDefined": "ENSP00000414823.2:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3792,
          "referenceAllele": "T",
          "start": 3791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.3206T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Leu1069Pro",
        "hgvsWellDefined": "ENSP00000410287.2:p.Leu1069Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3700,
          "referenceAllele": "T",
          "start": 3699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.3206T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Leu1069Pro",
        "hgvsWellDefined": "ENSP00000389744.1:p.Leu1069Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506546",
      "coordinates": [
        {
          "allele": "C",
          "end": 3592,
          "referenceAllele": "T",
          "start": 3591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.3404T>C",
        "LRG_515t1:c.3404T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Leu1135Pro",
        "hgvsWellDefined": "NP_000255.2:p.Leu1135Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490458",
      "coordinates": [
        {
          "allele": "C",
          "end": 3700,
          "referenceAllele": "T",
          "start": 3699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.3206T>C",
        "LRG_515t2:c.3206T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Leu1069Pro",
        "hgvsWellDefined": "NP_001077071.1:p.Leu1069Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497195",
      "coordinates": [
        {
          "allele": "C",
          "end": 3546,
          "referenceAllele": "T",
          "start": 3545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.3401T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Leu1134Pro",
        "hgvsWellDefined": "NP_001077072.1:p.Leu1134Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504046",
      "coordinates": [
        {
          "allele": "C",
          "end": 3310,
          "referenceAllele": "T",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Leu984Pro",
        "hgvsWellDefined": "NP_001077073.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507878",
      "coordinates": [
        {
          "allele": "C",
          "end": 3293,
          "referenceAllele": "T",
          "start": 3292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Leu984Pro",
        "hgvsWellDefined": "NP_001077074.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510876",
      "coordinates": [
        {
          "allele": "C",
          "end": 3392,
          "referenceAllele": "T",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Leu984Pro",
        "hgvsWellDefined": "NP_001077075.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915970303",
      "coordinates": [
        {
          "allele": "C",
          "end": 3466,
          "referenceAllele": "T",
          "start": 3465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Leu984Pro",
        "hgvsWellDefined": "NP_001077076.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3150,
          "referenceAllele": "T",
          "start": 3149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Leu984Pro",
        "hgvsWellDefined": "XP_005252159.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3448,
          "referenceAllele": "T",
          "start": 3447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.3248T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Leu1083Pro",
        "hgvsWellDefined": "XP_011517170.1:p.Leu1083Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3099,
          "referenceAllele": "T",
          "start": 3098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Leu984Pro",
        "hgvsWellDefined": "XP_011517171.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3087,
          "referenceAllele": "T",
          "start": 3086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Leu984Pro",
        "hgvsWellDefined": "XP_011517172.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3074,
          "referenceAllele": "T",
          "start": 3073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Leu984Pro",
        "hgvsWellDefined": "XP_011517173.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3057,
          "referenceAllele": "T",
          "start": 3056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Leu984Pro",
        "hgvsWellDefined": "XP_011517174.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2851,
          "referenceAllele": "T",
          "start": 2850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.2564T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Leu855Pro",
        "hgvsWellDefined": "XP_011517175.1:p.Leu855Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3604,
          "referenceAllele": "T",
          "start": 3603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.3404T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Leu1135Pro",
        "hgvsWellDefined": "XP_011517176.1:p.Leu1135Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506546",
      "coordinates": [
        {
          "allele": "C",
          "end": 3592,
          "referenceAllele": "T",
          "start": 3591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.3404T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Leu1135Pro",
        "hgvsWellDefined": "NP_000255.2:p.Leu1135Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490458",
      "coordinates": [
        {
          "allele": "C",
          "end": 3792,
          "referenceAllele": "T",
          "start": 3791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.3206T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Leu1069Pro",
        "hgvsWellDefined": "NP_001077071.1:p.Leu1069Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497195",
      "coordinates": [
        {
          "allele": "C",
          "end": 3546,
          "referenceAllele": "T",
          "start": 3545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.3401T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Leu1134Pro",
        "hgvsWellDefined": "NP_001077072.1:p.Leu1134Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504046",
      "coordinates": [
        {
          "allele": "C",
          "end": 3310,
          "referenceAllele": "T",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Leu984Pro",
        "hgvsWellDefined": "NP_001077073.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507878",
      "coordinates": [
        {
          "allele": "C",
          "end": 3293,
          "referenceAllele": "T",
          "start": 3292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Leu984Pro",
        "hgvsWellDefined": "NP_001077074.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510876",
      "coordinates": [
        {
          "allele": "C",
          "end": 3392,
          "referenceAllele": "T",
          "start": 3391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Leu984Pro",
        "hgvsWellDefined": "NP_001077075.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915970303",
      "coordinates": [
        {
          "allele": "C",
          "end": 3466,
          "referenceAllele": "T",
          "start": 3465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Leu984Pro",
        "hgvsWellDefined": "NP_001077076.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828034518",
      "coordinates": [
        {
          "allele": "C",
          "end": 3436,
          "referenceAllele": "T",
          "start": 3435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.3248T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Leu1083Pro",
        "hgvsWellDefined": "NP_001341847.1:p.Leu1083Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3426,
          "referenceAllele": "T",
          "start": 3425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.3426T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506546",
      "coordinates": [
        {
          "allele": "C",
          "end": 4309,
          "referenceAllele": "T",
          "start": 4308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.3404T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Leu1135Pro",
        "hgvsWellDefined": "NP_000255.2:p.Leu1135Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3404T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3404T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Leu1135Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Leu1135Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825510876",
      "coordinates": [
        {
          "allele": "C",
          "end": 3402,
          "referenceAllele": "T",
          "start": 3401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Leu984Pro",
        "hgvsWellDefined": "NP_001077075.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828034518",
      "coordinates": [
        {
          "allele": "C",
          "end": 4153,
          "referenceAllele": "T",
          "start": 4152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.3248T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Leu1083Pro",
        "hgvsWellDefined": "NP_001341847.1:p.Leu1083Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4143,
          "referenceAllele": "T",
          "start": 4142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.4143T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825490458",
      "coordinates": [
        {
          "allele": "C",
          "end": 3706,
          "referenceAllele": "T",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.3206T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Leu1069Pro",
        "hgvsWellDefined": "NP_001077071.1:p.Leu1069Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497195",
      "coordinates": [
        {
          "allele": "C",
          "end": 3552,
          "referenceAllele": "T",
          "start": 3551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.3401T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Leu1134Pro",
        "hgvsWellDefined": "NP_001077072.1:p.Leu1134Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3401T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3401T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Leu1134Pro"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Leu1134Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504046",
      "coordinates": [
        {
          "allele": "C",
          "end": 3310,
          "referenceAllele": "T",
          "start": 3309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Leu984Pro",
        "hgvsWellDefined": "NP_001077073.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825507878",
      "coordinates": [
        {
          "allele": "C",
          "end": 3293,
          "referenceAllele": "T",
          "start": 3292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Leu984Pro",
        "hgvsWellDefined": "NP_001077074.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915970303",
      "coordinates": [
        {
          "allele": "C",
          "end": 3466,
          "referenceAllele": "T",
          "start": 3465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.2951T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Leu984Pro",
        "hgvsWellDefined": "NP_001077076.1:p.Leu984Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}