{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA196594873",
  "communityStandardTitle": [
    "NM_000264.5(PTCH1):c.1192G>A (p.Ala398Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=638557[alleleid]",
        "alleleId": 638557,
        "preferredName": "NM_000264.5(PTCH1):c.1192G>A (p.Ala398Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/642143",
        "RCV": [
          "RCV000795548",
          "RCV001010167"
        ],
        "variationId": 642143
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.98241305C>T?assembly=hg19",
        "id": "chr9:g.98241305C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.95479023C>T?assembly=hg38",
        "id": "chr9:g.95479023C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/937023804",
        "rs": 937023804
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-98241305-C-T?dataset=gnomad_r2_1",
        "id": "9-98241305-C-T",
        "variant": "9:98241305 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95479023-C-T?dataset=gnomad_r3",
        "id": "9-95479023-C-T",
        "variant": "9:95479023 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-95479023-C-T?dataset=gnomad_r4",
        "id": "9-95479023-C-T",
        "variant": "9:95479023 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 95479023,
          "referenceAllele": "C",
          "start": 95479022
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95479023C>T",
        "CM000671.2:g.95479023C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 98241305,
          "referenceAllele": "C",
          "start": 98241304
        }
      ],
      "hgvs": [
        "NC_000009.11:g.98241305C>T",
        "CM000671.1:g.98241305C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 97281126,
          "referenceAllele": "C",
          "start": 97281125
        }
      ],
      "hgvs": [
        "NC_000009.10:g.97281126C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42943,
          "referenceAllele": "G",
          "start": 42942
        }
      ],
      "hgvs": [
        "NG_007664.1:g.42943G>A",
        "LRG_515:g.42943G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000667"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "referenceAllele": "G",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000711046.1:c.994G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518556.1:p.Ala332Thr",
        "hgvsWellDefined": "ENSP00000518556.1:p.Ala332Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.6:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.2:p.Ala397Thr",
        "hgvsWellDefined": "ENSP00000389744.2:p.Ala397Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824905",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.1189G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.1189G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Ala397Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Ala397Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 883,
          "referenceAllele": "G",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000690194.1:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509379.1:p.Ala247Thr",
        "hgvsWellDefined": "ENSP00000509379.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000692981.1:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510238.1:p.Ala247Thr",
        "hgvsWellDefined": "ENSP00000510238.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834000"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2097,
          "referenceAllele": "G",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.11:c.1192G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Ala398Thr",
        "hgvsWellDefined": "ENSP00000332353.6:p.Ala398Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747203",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.1192G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.1192G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Ala398Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Ala398Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1492,
          "referenceAllele": "G",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000331920.10:c.1192G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332353.6:p.Ala398Thr",
        "hgvsWellDefined": "ENSP00000332353.6:p.Ala398Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375271.4:c.343G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364420.4:p.Ala115Thr",
        "hgvsWellDefined": "ENSP00000364420.4:p.Ala115Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375274.6:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364423.2:p.Ala397Thr",
        "hgvsWellDefined": "ENSP00000364423.2:p.Ala397Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "referenceAllele": "G",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000375290.6:c.829G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364439.2:p.Ala277Thr",
        "hgvsWellDefined": "ENSP00000364439.2:p.Ala277Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000418258.5:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396135.1:p.Ala247Thr",
        "hgvsWellDefined": "ENSP00000396135.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000421141.5:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399981.1:p.Ala247Thr",
        "hgvsWellDefined": "ENSP00000399981.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000429896.6:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414823.2:p.Ala247Thr",
        "hgvsWellDefined": "ENSP00000414823.2:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290874"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1580,
          "referenceAllele": "G",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000430669.6:c.994G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410287.2:p.Ala332Thr",
        "hgvsWellDefined": "ENSP00000410287.2:p.Ala332Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291255"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1488,
          "referenceAllele": "G",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "ENST00000437951.5:c.994G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389744.1:p.Ala332Thr",
        "hgvsWellDefined": "ENSP00000389744.1:p.Ala332Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825119835",
      "coordinates": [
        {
          "allele": "A",
          "end": 1380,
          "referenceAllele": "G",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.3:c.1192G>A",
        "LRG_515t1:c.1192G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ala398Thr",
        "hgvsWellDefined": "NP_000255.2:p.Ala398Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006326"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825486710",
      "coordinates": [
        {
          "allele": "A",
          "end": 1488,
          "referenceAllele": "G",
          "start": 1487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.1:c.994G>A",
        "LRG_515t2:c.994G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ala332Thr",
        "hgvsWellDefined": "NP_001077071.1:p.Ala332Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010399"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825493249",
      "coordinates": [
        {
          "allele": "A",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.1:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ala397Thr",
        "hgvsWellDefined": "NP_001077072.1:p.Ala397Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010400"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825500536",
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.1:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ala247Thr",
        "hgvsWellDefined": "NP_001077073.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506272",
      "coordinates": [
        {
          "allele": "A",
          "end": 1081,
          "referenceAllele": "G",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.1:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ala247Thr",
        "hgvsWellDefined": "NP_001077074.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509267",
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.1:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ala247Thr",
        "hgvsWellDefined": "NP_001077075.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512134",
      "coordinates": [
        {
          "allele": "A",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.1:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ala247Thr",
        "hgvsWellDefined": "NP_001077076.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 938,
          "referenceAllele": "G",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_005252102.2:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252159.1:p.Ala247Thr",
        "hgvsWellDefined": "XP_005252159.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1392,
          "referenceAllele": "G",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518868.1:c.1192G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517170.1:p.Ala398Thr",
        "hgvsWellDefined": "XP_011517170.1:p.Ala398Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 887,
          "referenceAllele": "G",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518869.1:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517171.1:p.Ala247Thr",
        "hgvsWellDefined": "XP_011517171.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 875,
          "referenceAllele": "G",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518870.1:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517172.1:p.Ala247Thr",
        "hgvsWellDefined": "XP_011517172.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 862,
          "referenceAllele": "G",
          "start": 861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518871.1:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517173.1:p.Ala247Thr",
        "hgvsWellDefined": "XP_011517173.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086045"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518872.1:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517174.1:p.Ala247Thr",
        "hgvsWellDefined": "XP_011517174.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086046"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518873.1:c.352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517175.1:p.Ala118Thr",
        "hgvsWellDefined": "XP_011517175.1:p.Ala118Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1392,
          "referenceAllele": "G",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "XM_011518874.1:c.1192G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517176.1:p.Ala398Thr",
        "hgvsWellDefined": "XP_011517176.1:p.Ala398Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825119835",
      "coordinates": [
        {
          "allele": "A",
          "end": 1380,
          "referenceAllele": "G",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.4:c.1192G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ala398Thr",
        "hgvsWellDefined": "NP_000255.2:p.Ala398Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825486710",
      "coordinates": [
        {
          "allele": "A",
          "end": 1580,
          "referenceAllele": "G",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.2:c.994G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ala332Thr",
        "hgvsWellDefined": "NP_001077071.1:p.Ala332Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825493249",
      "coordinates": [
        {
          "allele": "A",
          "end": 1334,
          "referenceAllele": "G",
          "start": 1333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.2:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ala397Thr",
        "hgvsWellDefined": "NP_001077072.1:p.Ala397Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825500536",
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.2:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ala247Thr",
        "hgvsWellDefined": "NP_001077073.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511273"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506272",
      "coordinates": [
        {
          "allele": "A",
          "end": 1081,
          "referenceAllele": "G",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.2:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ala247Thr",
        "hgvsWellDefined": "NP_001077074.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511274"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509267",
      "coordinates": [
        {
          "allele": "A",
          "end": 1180,
          "referenceAllele": "G",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.2:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ala247Thr",
        "hgvsWellDefined": "NP_001077075.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512134",
      "coordinates": [
        {
          "allele": "A",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.2:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ala247Thr",
        "hgvsWellDefined": "NP_001077076.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916042912",
      "coordinates": [
        {
          "allele": "A",
          "end": 1380,
          "referenceAllele": "G",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.1:c.1192G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Ala398Thr",
        "hgvsWellDefined": "NP_001341847.1:p.Ala398Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1380,
          "referenceAllele": "G",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.1:n.1380G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825119835",
      "coordinates": [
        {
          "allele": "A",
          "end": 2097,
          "referenceAllele": "G",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_000264.5:c.1192G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000255.2:p.Ala398Thr",
        "hgvsWellDefined": "NP_000255.2:p.Ala398Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674767",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331920.11:c.1192G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000264.5:c.1192G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332353.6:p.Ala398Thr"
          },
          "RefSeq": {
            "hgvs": "NP_000255.2:p.Ala398Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825509267",
      "coordinates": [
        {
          "allele": "A",
          "end": 1190,
          "referenceAllele": "G",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083606.3:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077075.1:p.Ala247Thr",
        "hgvsWellDefined": "NP_001077075.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916042912",
      "coordinates": [
        {
          "allele": "A",
          "end": 2097,
          "referenceAllele": "G",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001354918.2:c.1192G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341847.1:p.Ala398Thr",
        "hgvsWellDefined": "NP_001341847.1:p.Ala398Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690361"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2097,
          "referenceAllele": "G",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NR_149061.2:n.2097G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704914"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825486710",
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "referenceAllele": "G",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083602.3:c.994G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077071.1:p.Ala332Thr",
        "hgvsWellDefined": "NP_001077071.1:p.Ala332Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711862"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825493249",
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083603.3:c.1189G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077072.1:p.Ala397Thr",
        "hgvsWellDefined": "NP_001077072.1:p.Ala397Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000437951.6:c.1189G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001083603.3:c.1189G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389744.2:p.Ala397Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001077072.1:p.Ala397Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825500536",
      "coordinates": [
        {
          "allele": "A",
          "end": 1098,
          "referenceAllele": "G",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083604.3:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077073.1:p.Ala247Thr",
        "hgvsWellDefined": "NP_001077073.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711864"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825506272",
      "coordinates": [
        {
          "allele": "A",
          "end": 1081,
          "referenceAllele": "G",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083605.3:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077074.1:p.Ala247Thr",
        "hgvsWellDefined": "NP_001077074.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711865"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825512134",
      "coordinates": [
        {
          "allele": "A",
          "end": 1254,
          "referenceAllele": "G",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009585",
      "geneNCBI_id": 5727,
      "geneSymbol": "PTCH1",
      "hgvs": [
        "NM_001083607.3:c.739G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001077076.1:p.Ala247Thr",
        "hgvsWellDefined": "NP_001077076.1:p.Ala247Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711866"
    }
  ],
  "type": "nucleotide"
}