{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2290173658",
  "communityStandardTitle": [
    "NM_000271.5(NPC1):c.1298C= (p.Pro433=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793791",
        "rs": 1064793791
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 23556271,
          "referenceAllele": "G",
          "start": 23556270
        }
      ],
      "hgvs": [
        "NC_000018.10:g.23556271G=",
        "CM000680.2:g.23556271G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 21136235,
          "referenceAllele": "G",
          "start": 21136234
        }
      ],
      "hgvs": [
        "NC_000018.9:g.21136235G=",
        "CM000680.1:g.21136235G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "G",
          "end": 19390233,
          "referenceAllele": "G",
          "start": 19390232
        }
      ],
      "hgvs": [
        "NC_000018.8:g.19390233G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35347,
          "referenceAllele": "C",
          "start": 35346
        }
      ],
      "hgvs": [
        "NG_012795.1:g.35347C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002534"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1461,
          "referenceAllele": "C",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.10:c.1298C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:p.Pro433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743101",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.1298C="
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.1298C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Pro433="
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Pro433="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1853,
          "referenceAllele": "C",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.9:c.1298C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:p.Pro433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1212,
          "referenceAllele": "C",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000540608.5:n.1212C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 580,
          "referenceAllele": "C",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000591051.1:c.580C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085600337",
      "coordinates": [
        {
          "allele": "C",
          "end": 1572,
          "referenceAllele": "C",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.4:c.1298C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Pro433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006333"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258277.1:c.1349C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258334.1:p.Pro450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062018"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.3:c.1349C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Pro450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1461,
          "referenceAllele": "C",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.1:c.1298C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Pro433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.2:c.1349C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Pro450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1760,
          "referenceAllele": "C",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_011526015.1:c.884C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524317.1:p.Pro295="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.5:c.1349C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:p.Pro450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1461,
          "referenceAllele": "C",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.2:c.1298C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:p.Pro433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.3:c.1349C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:p.Pro450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540548"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025784.1:c.1349C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881273.1:p.Pro450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576072"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025785.1:c.1349C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881274.1:p.Pro450="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1461,
          "referenceAllele": "C",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025786.1:c.1298C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881275.1:p.Pro433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1461,
          "referenceAllele": "C",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025787.1:c.1298C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881276.1:p.Pro433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3085600337",
      "coordinates": [
        {
          "allele": "C",
          "end": 1461,
          "referenceAllele": "C",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.5:c.1298C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:p.Pro433="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.1298C="
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.1298C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:p.Pro433="
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:p.Pro433="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}