{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374115833",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.2017C>G (p.His673Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2949655[alleleid]",
        "alleleId": 2949655,
        "preferredName": "NM_000264.5(PTCH1):c.2017C>G (p.His673Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2789813",
        "RCV": [
          "RCV003609484"
        ],
        "variationId": 2789813
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98231266G>C?assembly=hg19",
        "id": "chr9:g.98231266G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95468984G>C?assembly=hg38",
        "id": "chr9:g.95468984G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1184226425",
        "rs": 1184226425
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98231266-G-C?dataset=gnomad_r2_1",
        "id": "9-98231266-G-C",
        "variant": "9:98231266 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95468984-G-C?dataset=gnomad_r4",
        "id": "9-95468984-G-C",
        "variant": "9:95468984 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 95468984,
          "referenceAllele": "G",
          "start": 95468983
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95468984G>C",
        "CM000671.2:g.95468984G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 98231266,
          "referenceAllele": "G",
          "start": 98231265
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98231266G>C",
        "CM000671.1:g.98231266G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 97271087,
          "referenceAllele": "G",
          "start": 97271086
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97271087G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 52982,
          "referenceAllele": "C",
          "start": 52981
        }
      ],
      "hgvs": [
        "NG_007664.1:g.52982C>G",
        "LRG_515:g.52982C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.1819C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.His607Asp",
        "hgvsWellDefined": "ENSP00000518556.1:p.His607Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2165,
          "referenceAllele": "C",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.2014C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.His672Asp",
        "hgvsWellDefined": "ENSP00000389744.2:p.His672Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.2014C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.2014C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.His672Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.His672Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1840,
          "referenceAllele": "C",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*325C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*325C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1705,
          "referenceAllele": "C",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.His522Asp",
        "hgvsWellDefined": "ENSP00000510238.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2922,
          "referenceAllele": "C",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.2017C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.His673Asp",
        "hgvsWellDefined": "ENSP00000332353.6:p.His673Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.2017C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.2017C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.His673Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.His673Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2317,
          "referenceAllele": "C",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.2017C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.His673Asp",
        "hgvsWellDefined": "ENSP00000332353.6:p.His673Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1012,
          "referenceAllele": "C",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375271.4:c.1012C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364420.4:p.His338Asp",
        "hgvsWellDefined": "ENSP00000364420.4:p.His338Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2159,
          "referenceAllele": "C",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.2014C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.His672Asp",
        "hgvsWellDefined": "ENSP00000364423.2:p.His672Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1786,
          "referenceAllele": "C",
          "start": 1785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.1786C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.1786C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "C",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.His522Asp",
        "hgvsWellDefined": "ENSP00000396135.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1923,
          "referenceAllele": "C",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.His522Asp",
        "hgvsWellDefined": "ENSP00000399981.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2005,
          "referenceAllele": "C",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.His522Asp",
        "hgvsWellDefined": "ENSP00000414823.2:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2405,
          "referenceAllele": "C",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.1819C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.His607Asp",
        "hgvsWellDefined": "ENSP00000410287.2:p.His607Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2313,
          "referenceAllele": "C",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.1819C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.His607Asp",
        "hgvsWellDefined": "ENSP00000389744.1:p.His607Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 206,
          "referenceAllele": "C",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000549678.1:n.206C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS367610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741813620",
      "coordinates": [
        {
          "allele": "G",
          "end": 2205,
          "referenceAllele": "C",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.2017C>G",
        "LRG_515t1:c.2017C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.His673Asp",
        "hgvsWellDefined": "NP_000255.2:p.His673Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825488896",
      "coordinates": [
        {
          "allele": "G",
          "end": 2313,
          "referenceAllele": "C",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.1819C>G",
        "LRG_515t2:c.1819C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.His607Asp",
        "hgvsWellDefined": "NP_001077071.1:p.His607Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825494957",
      "coordinates": [
        {
          "allele": "G",
          "end": 2159,
          "referenceAllele": "C",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.2014C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.His672Asp",
        "hgvsWellDefined": "NP_001077072.1:p.His672Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825502138",
      "coordinates": [
        {
          "allele": "G",
          "end": 1923,
          "referenceAllele": "C",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.His522Asp",
        "hgvsWellDefined": "NP_001077073.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506869",
      "coordinates": [
        {
          "allele": "G",
          "end": 1906,
          "referenceAllele": "C",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.His522Asp",
        "hgvsWellDefined": "NP_001077074.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509864",
      "coordinates": [
        {
          "allele": "G",
          "end": 2005,
          "referenceAllele": "C",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.His522Asp",
        "hgvsWellDefined": "NP_001077075.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512731",
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "C",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.His522Asp",
        "hgvsWellDefined": "NP_001077076.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "G",
          "start": 921
        }
      ],
      "hgvs": [
        "NR_038982.1:n.922G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1763,
          "referenceAllele": "C",
          "start": 1762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.His522Asp",
        "hgvsWellDefined": "XP_005252159.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2061,
          "referenceAllele": "C",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.1861C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.His621Asp",
        "hgvsWellDefined": "XP_011517170.1:p.His621Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1712,
          "referenceAllele": "C",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.His522Asp",
        "hgvsWellDefined": "XP_011517171.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1700,
          "referenceAllele": "C",
          "start": 1699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.His522Asp",
        "hgvsWellDefined": "XP_011517172.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1687,
          "referenceAllele": "C",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.His522Asp",
        "hgvsWellDefined": "XP_011517173.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1670,
          "referenceAllele": "C",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.His522Asp",
        "hgvsWellDefined": "XP_011517174.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1464,
          "referenceAllele": "C",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.1177C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.His393Asp",
        "hgvsWellDefined": "XP_011517175.1:p.His393Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2217,
          "referenceAllele": "C",
          "start": 2216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.2017C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.His673Asp",
        "hgvsWellDefined": "XP_011517176.1:p.His673Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741813620",
      "coordinates": [
        {
          "allele": "G",
          "end": 2205,
          "referenceAllele": "C",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.2017C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.His673Asp",
        "hgvsWellDefined": "NP_000255.2:p.His673Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825488896",
      "coordinates": [
        {
          "allele": "G",
          "end": 2405,
          "referenceAllele": "C",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.1819C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.His607Asp",
        "hgvsWellDefined": "NP_001077071.1:p.His607Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825494957",
      "coordinates": [
        {
          "allele": "G",
          "end": 2159,
          "referenceAllele": "C",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.2014C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.His672Asp",
        "hgvsWellDefined": "NP_001077072.1:p.His672Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825502138",
      "coordinates": [
        {
          "allele": "G",
          "end": 1923,
          "referenceAllele": "C",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.His522Asp",
        "hgvsWellDefined": "NP_001077073.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506869",
      "coordinates": [
        {
          "allele": "G",
          "end": 1906,
          "referenceAllele": "C",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.His522Asp",
        "hgvsWellDefined": "NP_001077074.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509864",
      "coordinates": [
        {
          "allele": "G",
          "end": 2005,
          "referenceAllele": "C",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.His522Asp",
        "hgvsWellDefined": "NP_001077075.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512731",
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "C",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.His522Asp",
        "hgvsWellDefined": "NP_001077076.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828032980",
      "coordinates": [
        {
          "allele": "G",
          "end": 2049,
          "referenceAllele": "C",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.1861C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.His621Asp",
        "hgvsWellDefined": "NP_001341847.1:p.His621Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2205,
          "referenceAllele": "C",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.2205C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741813620",
      "coordinates": [
        {
          "allele": "G",
          "end": 2922,
          "referenceAllele": "C",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.2017C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.His673Asp",
        "hgvsWellDefined": "NP_000255.2:p.His673Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.2017C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.2017C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.His673Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.His673Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509864",
      "coordinates": [
        {
          "allele": "G",
          "end": 2015,
          "referenceAllele": "C",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.His522Asp",
        "hgvsWellDefined": "NP_001077075.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828032980",
      "coordinates": [
        {
          "allele": "G",
          "end": 2766,
          "referenceAllele": "C",
          "start": 2765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.1861C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.His621Asp",
        "hgvsWellDefined": "NP_001341847.1:p.His621Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2922,
          "referenceAllele": "C",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.2922C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825488896",
      "coordinates": [
        {
          "allele": "G",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.1819C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.His607Asp",
        "hgvsWellDefined": "NP_001077071.1:p.His607Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825494957",
      "coordinates": [
        {
          "allele": "G",
          "end": 2165,
          "referenceAllele": "C",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.2014C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.His672Asp",
        "hgvsWellDefined": "NP_001077072.1:p.His672Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.2014C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.2014C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.His672Asp"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.His672Asp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825502138",
      "coordinates": [
        {
          "allele": "G",
          "end": 1923,
          "referenceAllele": "C",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.His522Asp",
        "hgvsWellDefined": "NP_001077073.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506869",
      "coordinates": [
        {
          "allele": "G",
          "end": 1906,
          "referenceAllele": "C",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.His522Asp",
        "hgvsWellDefined": "NP_001077074.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512731",
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "C",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.1564C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.His522Asp",
        "hgvsWellDefined": "NP_001077076.1:p.His522Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}