{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA374119709",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.998A>G (p.Lys333Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2035689[alleleid]",
        "alleleId": 2035689,
        "preferredName": "NM_000264.5(PTCH1):c.998A>G (p.Lys333Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1982929",
        "RCV": [
          "RCV003167741",
          "RCV002785666"
        ],
        "variationId": 1982929
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98242320T>C?assembly=hg19",
        "id": "chr9:g.98242320T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95480038T>C?assembly=hg38",
        "id": "chr9:g.95480038T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1238175144",
        "rs": 1238175144
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98242320-T-C?dataset=gnomad_r2_1",
        "id": "9-98242320-T-C",
        "variant": "9:98242320 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95480038-T-C?dataset=gnomad_r4",
        "id": "9-95480038-T-C",
        "variant": "9:95480038 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 95480038,
          "referenceAllele": "T",
          "start": 95480037
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95480038T>C",
        "CM000671.2:g.95480038T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 98242320,
          "referenceAllele": "T",
          "start": 98242319
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98242320T>C",
        "CM000671.1:g.98242320T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 97282141,
          "referenceAllele": "T",
          "start": 97282140
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97282141T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 41928,
          "referenceAllele": "A",
          "start": 41927
        }
      ],
      "hgvs": [
        "NG_007664.1:g.41928A>G",
        "LRG_515:g.41928A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1300,
          "referenceAllele": "A",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.800A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Lys267Arg",
        "hgvsWellDefined": "ENSP00000518556.1:p.Lys267Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "referenceAllele": "A",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.995A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Lys332Arg",
        "hgvsWellDefined": "ENSP00000389744.2:p.Lys332Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.995A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.995A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Lys332Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Lys332Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 689,
          "referenceAllele": "A",
          "start": 688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:p.Lys182Arg",
        "hgvsWellDefined": "ENSP00000509379.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "A",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Lys182Arg",
        "hgvsWellDefined": "ENSP00000510238.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1903,
          "referenceAllele": "A",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Lys333Arg",
        "hgvsWellDefined": "ENSP00000332353.6:p.Lys333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.998A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.998A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Lys333Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Lys333Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1298,
          "referenceAllele": "A",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Lys333Arg",
        "hgvsWellDefined": "ENSP00000332353.6:p.Lys333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 149,
          "referenceAllele": "A",
          "start": 148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375271.4:c.149A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364420.4:p.Lys50Arg",
        "hgvsWellDefined": "ENSP00000364420.4:p.Lys50Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "referenceAllele": "A",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.995A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Lys332Arg",
        "hgvsWellDefined": "ENSP00000364423.2:p.Lys332Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 635,
          "referenceAllele": "A",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.635A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:p.Lys212Arg",
        "hgvsWellDefined": "ENSP00000364439.2:p.Lys212Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "A",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Lys182Arg",
        "hgvsWellDefined": "ENSP00000396135.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "A",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Lys182Arg",
        "hgvsWellDefined": "ENSP00000399981.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 986,
          "referenceAllele": "A",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Lys182Arg",
        "hgvsWellDefined": "ENSP00000414823.2:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1386,
          "referenceAllele": "A",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.800A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Lys267Arg",
        "hgvsWellDefined": "ENSP00000410287.2:p.Lys267Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "referenceAllele": "A",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.800A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Lys267Arg",
        "hgvsWellDefined": "ENSP00000389744.1:p.Lys267Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 119,
          "referenceAllele": "A",
          "start": 118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000488809.2:n.119A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327010"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 511,
          "referenceAllele": "A",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000548420.1:c.158A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449078.1:p.Lys53Arg",
        "hgvsWellDefined": "ENSP00000449078.1:p.Lys53Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366846"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825119644",
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "referenceAllele": "A",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.998A>G",
        "LRG_515t1:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Lys333Arg",
        "hgvsWellDefined": "NP_000255.2:p.Lys333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825488195",
      "coordinates": [
        {
          "allele": "G",
          "end": 1294,
          "referenceAllele": "A",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.800A>G",
        "LRG_515t2:c.800A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Lys267Arg",
        "hgvsWellDefined": "NP_001077071.1:p.Lys267Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825492887",
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "referenceAllele": "A",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.995A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Lys332Arg",
        "hgvsWellDefined": "NP_001077072.1:p.Lys332Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825500192",
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "A",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Lys182Arg",
        "hgvsWellDefined": "NP_001077073.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506127",
      "coordinates": [
        {
          "allele": "G",
          "end": 887,
          "referenceAllele": "A",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Lys182Arg",
        "hgvsWellDefined": "NP_001077074.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509125",
      "coordinates": [
        {
          "allele": "G",
          "end": 986,
          "referenceAllele": "A",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Lys182Arg",
        "hgvsWellDefined": "NP_001077075.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511991",
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "A",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Lys182Arg",
        "hgvsWellDefined": "NP_001077076.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "referenceAllele": "A",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Lys182Arg",
        "hgvsWellDefined": "XP_005252159.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1198,
          "referenceAllele": "A",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Lys333Arg",
        "hgvsWellDefined": "XP_011517170.1:p.Lys333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 693,
          "referenceAllele": "A",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Lys182Arg",
        "hgvsWellDefined": "XP_011517171.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 681,
          "referenceAllele": "A",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Lys182Arg",
        "hgvsWellDefined": "XP_011517172.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 668,
          "referenceAllele": "A",
          "start": 667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Lys182Arg",
        "hgvsWellDefined": "XP_011517173.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 651,
          "referenceAllele": "A",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Lys182Arg",
        "hgvsWellDefined": "XP_011517174.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 445,
          "referenceAllele": "A",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.158A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Lys53Arg",
        "hgvsWellDefined": "XP_011517175.1:p.Lys53Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1198,
          "referenceAllele": "A",
          "start": 1197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Lys333Arg",
        "hgvsWellDefined": "XP_011517176.1:p.Lys333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825119644",
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "referenceAllele": "A",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Lys333Arg",
        "hgvsWellDefined": "NP_000255.2:p.Lys333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825488195",
      "coordinates": [
        {
          "allele": "G",
          "end": 1386,
          "referenceAllele": "A",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.800A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Lys267Arg",
        "hgvsWellDefined": "NP_001077071.1:p.Lys267Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825492887",
      "coordinates": [
        {
          "allele": "G",
          "end": 1140,
          "referenceAllele": "A",
          "start": 1139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.995A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Lys332Arg",
        "hgvsWellDefined": "NP_001077072.1:p.Lys332Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825500192",
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "A",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Lys182Arg",
        "hgvsWellDefined": "NP_001077073.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506127",
      "coordinates": [
        {
          "allele": "G",
          "end": 887,
          "referenceAllele": "A",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Lys182Arg",
        "hgvsWellDefined": "NP_001077074.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509125",
      "coordinates": [
        {
          "allele": "G",
          "end": 986,
          "referenceAllele": "A",
          "start": 985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Lys182Arg",
        "hgvsWellDefined": "NP_001077075.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511991",
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "A",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Lys182Arg",
        "hgvsWellDefined": "NP_001077076.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580231300",
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "referenceAllele": "A",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Lys333Arg",
        "hgvsWellDefined": "NP_001341847.1:p.Lys333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1186,
          "referenceAllele": "A",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.1186A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825119644",
      "coordinates": [
        {
          "allele": "G",
          "end": 1903,
          "referenceAllele": "A",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Lys333Arg",
        "hgvsWellDefined": "NP_000255.2:p.Lys333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.998A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.998A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Lys333Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Lys333Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509125",
      "coordinates": [
        {
          "allele": "G",
          "end": 996,
          "referenceAllele": "A",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Lys182Arg",
        "hgvsWellDefined": "NP_001077075.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580231300",
      "coordinates": [
        {
          "allele": "G",
          "end": 1903,
          "referenceAllele": "A",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.998A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Lys333Arg",
        "hgvsWellDefined": "NP_001341847.1:p.Lys333Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1903,
          "referenceAllele": "A",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.1903A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825488195",
      "coordinates": [
        {
          "allele": "G",
          "end": 1300,
          "referenceAllele": "A",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.800A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Lys267Arg",
        "hgvsWellDefined": "NP_001077071.1:p.Lys267Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825492887",
      "coordinates": [
        {
          "allele": "G",
          "end": 1146,
          "referenceAllele": "A",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.995A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Lys332Arg",
        "hgvsWellDefined": "NP_001077072.1:p.Lys332Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.995A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.995A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Lys332Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Lys332Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825500192",
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "referenceAllele": "A",
          "start": 903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Lys182Arg",
        "hgvsWellDefined": "NP_001077073.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506127",
      "coordinates": [
        {
          "allele": "G",
          "end": 887,
          "referenceAllele": "A",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Lys182Arg",
        "hgvsWellDefined": "NP_001077074.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825511991",
      "coordinates": [
        {
          "allele": "G",
          "end": 1060,
          "referenceAllele": "A",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.545A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Lys182Arg",
        "hgvsWellDefined": "NP_001077076.1:p.Lys182Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}