{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5138030",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.3817G>A (p.Glu1273Lys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=460256[alleleid]",
        "alleleId": 460256,
        "preferredName": "NM_000264.5(PTCH1):c.3817G>A (p.Glu1273Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/453869",
        "RCV": [
          "RCV000535950",
          "RCV001021221"
        ],
        "variationId": 453869
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-98209721-C-T",
        "id": "9-98209721-C-T",
        "variant": "9:98209721 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98209721C>T?assembly=hg19",
        "id": "chr9:g.98209721C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95447439C>T?assembly=hg38",
        "id": "chr9:g.95447439C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749244396",
        "rs": 749244396
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98209721-C-T?dataset=gnomad_r2_1",
        "id": "9-98209721-C-T",
        "variant": "9:98209721 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95447439-C-T?dataset=gnomad_r3",
        "id": "9-95447439-C-T",
        "variant": "9:95447439 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95447439-C-T?dataset=gnomad_r4",
        "id": "9-95447439-C-T",
        "variant": "9:95447439 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 95447439,
          "referenceAllele": "C",
          "start": 95447438
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95447439C>T",
        "CM000671.2:g.95447439C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 98209721,
          "referenceAllele": "C",
          "start": 98209720
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98209721C>T",
        "CM000671.1:g.98209721C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 97249542,
          "referenceAllele": "C",
          "start": 97249541
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97249542C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 74527,
          "referenceAllele": "G",
          "start": 74526
        }
      ],
      "hgvs": [
        "NG_007664.1:g.74527G>A",
        "LRG_515:g.74527G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4119,
          "referenceAllele": "G",
          "start": 4118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.3619G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Glu1207Lys",
        "hgvsWellDefined": "ENSP00000518556.1:p.Glu1207Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3965,
          "referenceAllele": "G",
          "start": 3964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.3814G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Glu1272Lys",
        "hgvsWellDefined": "ENSP00000389744.2:p.Glu1272Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3814G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3814G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Glu1272Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Glu1272Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2014,
          "referenceAllele": "G",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000687744.1:n.2014G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831242"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3640,
          "referenceAllele": "G",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.*2125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:n.*2125G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3505,
          "referenceAllele": "G",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Glu1122Lys",
        "hgvsWellDefined": "ENSP00000510238.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1164,
          "referenceAllele": "G",
          "start": 1163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000693534.1:n.1164G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4722,
          "referenceAllele": "G",
          "start": 4721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.3817G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Glu1273Lys",
        "hgvsWellDefined": "ENSP00000332353.6:p.Glu1273Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3817G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3817G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Glu1273Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Glu1273Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4117,
          "referenceAllele": "G",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.3817G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Glu1273Lys",
        "hgvsWellDefined": "ENSP00000332353.6:p.Glu1273Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3959,
          "referenceAllele": "G",
          "start": 3958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.3814G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Glu1272Lys",
        "hgvsWellDefined": "ENSP00000364423.2:p.Glu1272Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7123,
          "referenceAllele": "G",
          "start": 7122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.7123G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:n.7123G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3879,
          "referenceAllele": "G",
          "start": 3878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Glu1122Lys",
        "hgvsWellDefined": "ENSP00000396135.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3723,
          "referenceAllele": "G",
          "start": 3722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Glu1122Lys",
        "hgvsWellDefined": "ENSP00000399981.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3805,
          "referenceAllele": "G",
          "start": 3804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Glu1122Lys",
        "hgvsWellDefined": "ENSP00000414823.2:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4205,
          "referenceAllele": "G",
          "start": 4204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.3619G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Glu1207Lys",
        "hgvsWellDefined": "ENSP00000410287.2:p.Glu1207Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4113,
          "referenceAllele": "G",
          "start": 4112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.3619G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Glu1207Lys",
        "hgvsWellDefined": "ENSP00000389744.1:p.Glu1207Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000546744.5:n.881G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658677646",
      "coordinates": [
        {
          "allele": "A",
          "end": 4005,
          "referenceAllele": "G",
          "start": 4004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.3817G>A",
        "LRG_515t1:c.3817G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Glu1273Lys",
        "hgvsWellDefined": "NP_000255.2:p.Glu1273Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487415",
      "coordinates": [
        {
          "allele": "A",
          "end": 4113,
          "referenceAllele": "G",
          "start": 4112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.3619G>A",
        "LRG_515t2:c.3619G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Glu1207Lys",
        "hgvsWellDefined": "NP_001077071.1:p.Glu1207Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497958",
      "coordinates": [
        {
          "allele": "A",
          "end": 3959,
          "referenceAllele": "G",
          "start": 3958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.3814G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Glu1272Lys",
        "hgvsWellDefined": "NP_001077072.1:p.Glu1272Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504725",
      "coordinates": [
        {
          "allele": "A",
          "end": 3723,
          "referenceAllele": "G",
          "start": 3722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Glu1122Lys",
        "hgvsWellDefined": "NP_001077073.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508210",
      "coordinates": [
        {
          "allele": "A",
          "end": 3706,
          "referenceAllele": "G",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Glu1122Lys",
        "hgvsWellDefined": "NP_001077074.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511205",
      "coordinates": [
        {
          "allele": "A",
          "end": 3805,
          "referenceAllele": "G",
          "start": 3804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Glu1122Lys",
        "hgvsWellDefined": "NP_001077075.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513949",
      "coordinates": [
        {
          "allele": "A",
          "end": 3879,
          "referenceAllele": "G",
          "start": 3878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Glu1122Lys",
        "hgvsWellDefined": "NP_001077076.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3563,
          "referenceAllele": "G",
          "start": 3562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Glu1122Lys",
        "hgvsWellDefined": "XP_005252159.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3861,
          "referenceAllele": "G",
          "start": 3860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.3661G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Glu1221Lys",
        "hgvsWellDefined": "XP_011517170.1:p.Glu1221Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3512,
          "referenceAllele": "G",
          "start": 3511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Glu1122Lys",
        "hgvsWellDefined": "XP_011517171.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3500,
          "referenceAllele": "G",
          "start": 3499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Glu1122Lys",
        "hgvsWellDefined": "XP_011517172.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3487,
          "referenceAllele": "G",
          "start": 3486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Glu1122Lys",
        "hgvsWellDefined": "XP_011517173.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3470,
          "referenceAllele": "G",
          "start": 3469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Glu1122Lys",
        "hgvsWellDefined": "XP_011517174.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3264,
          "referenceAllele": "G",
          "start": 3263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.2977G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Glu993Lys",
        "hgvsWellDefined": "XP_011517175.1:p.Glu993Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658677646",
      "coordinates": [
        {
          "allele": "A",
          "end": 4005,
          "referenceAllele": "G",
          "start": 4004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.3817G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Glu1273Lys",
        "hgvsWellDefined": "NP_000255.2:p.Glu1273Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487415",
      "coordinates": [
        {
          "allele": "A",
          "end": 4205,
          "referenceAllele": "G",
          "start": 4204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.3619G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Glu1207Lys",
        "hgvsWellDefined": "NP_001077071.1:p.Glu1207Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497958",
      "coordinates": [
        {
          "allele": "A",
          "end": 3959,
          "referenceAllele": "G",
          "start": 3958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.3814G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Glu1272Lys",
        "hgvsWellDefined": "NP_001077072.1:p.Glu1272Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504725",
      "coordinates": [
        {
          "allele": "A",
          "end": 3723,
          "referenceAllele": "G",
          "start": 3722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Glu1122Lys",
        "hgvsWellDefined": "NP_001077073.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508210",
      "coordinates": [
        {
          "allele": "A",
          "end": 3706,
          "referenceAllele": "G",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Glu1122Lys",
        "hgvsWellDefined": "NP_001077074.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511205",
      "coordinates": [
        {
          "allele": "A",
          "end": 3805,
          "referenceAllele": "G",
          "start": 3804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Glu1122Lys",
        "hgvsWellDefined": "NP_001077075.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513949",
      "coordinates": [
        {
          "allele": "A",
          "end": 3879,
          "referenceAllele": "G",
          "start": 3878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Glu1122Lys",
        "hgvsWellDefined": "NP_001077076.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828035133",
      "coordinates": [
        {
          "allele": "A",
          "end": 3849,
          "referenceAllele": "G",
          "start": 3848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.3661G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Glu1221Lys",
        "hgvsWellDefined": "NP_001341847.1:p.Glu1221Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3839,
          "referenceAllele": "G",
          "start": 3838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.3839G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658677646",
      "coordinates": [
        {
          "allele": "A",
          "end": 4722,
          "referenceAllele": "G",
          "start": 4721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.3817G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Glu1273Lys",
        "hgvsWellDefined": "NP_000255.2:p.Glu1273Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.3817G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.3817G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Glu1273Lys"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Glu1273Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511205",
      "coordinates": [
        {
          "allele": "A",
          "end": 3815,
          "referenceAllele": "G",
          "start": 3814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Glu1122Lys",
        "hgvsWellDefined": "NP_001077075.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828035133",
      "coordinates": [
        {
          "allele": "A",
          "end": 4566,
          "referenceAllele": "G",
          "start": 4565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.3661G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Glu1221Lys",
        "hgvsWellDefined": "NP_001341847.1:p.Glu1221Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4556,
          "referenceAllele": "G",
          "start": 4555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.4556G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825487415",
      "coordinates": [
        {
          "allele": "A",
          "end": 4119,
          "referenceAllele": "G",
          "start": 4118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.3619G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Glu1207Lys",
        "hgvsWellDefined": "NP_001077071.1:p.Glu1207Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497958",
      "coordinates": [
        {
          "allele": "A",
          "end": 3965,
          "referenceAllele": "G",
          "start": 3964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.3814G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Glu1272Lys",
        "hgvsWellDefined": "NP_001077072.1:p.Glu1272Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.3814G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.3814G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Glu1272Lys"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Glu1272Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825504725",
      "coordinates": [
        {
          "allele": "A",
          "end": 3723,
          "referenceAllele": "G",
          "start": 3722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Glu1122Lys",
        "hgvsWellDefined": "NP_001077073.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825508210",
      "coordinates": [
        {
          "allele": "A",
          "end": 3706,
          "referenceAllele": "G",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Glu1122Lys",
        "hgvsWellDefined": "NP_001077074.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825513949",
      "coordinates": [
        {
          "allele": "A",
          "end": 3879,
          "referenceAllele": "G",
          "start": 3878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.3364G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Glu1122Lys",
        "hgvsWellDefined": "NP_001077076.1:p.Glu1122Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}