{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2290162738",
  "communityStandardTitle": [
    "NM_000271.5(NPC1):c.3754+34A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2510344",
        "rs": 2510344
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 23533321,
          "referenceAllele": "T",
          "start": 23533320
        }
      ],
      "hgvs": [
        "NC_000018.10:g.23533321T=",
        "CM000680.2:g.23533321T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 21113285,
          "referenceAllele": "T",
          "start": 21113284
        }
      ],
      "hgvs": [
        "NC_000018.9:g.21113285T=",
        "CM000680.1:g.21113285T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 19367283,
          "referenceAllele": "T",
          "start": 19367282
        }
      ],
      "hgvs": [
        "NC_000018.8:g.19367283T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58297,
          "referenceAllele": "A",
          "start": 58296
        }
      ],
      "hgvs": [
        "NG_012795.1:g.58297A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34852,
          "referenceAllele": "T",
          "start": 34851
        }
      ],
      "hgvs": [
        "NG_033119.1:g.34852T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005444"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3917,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 3917,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.10:c.3754+34A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:n.3754+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743101",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.3754+34A="
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.3754+34A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:n.3754+34A="
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:n.3754+34A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4309,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 4309,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000269228.9:c.3754+34A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269228.4:n.3754+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252154"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 509,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000586150.5:c.509+34A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 312,
          "referenceAllele": "A",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000587163.1:n.312A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1437,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 1437,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000588867.1:n.1437+34A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 163,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000590723.5:c.163+34A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464755.1:n.163+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS392393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2832,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 2832,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000591051.1:c.2832+34A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 431,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000591107.6:c.431+34A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392659"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 86,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 86,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "ENST00000593280.2:c.86+34A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394140"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4028,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 4028,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.4:c.3754+34A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:n.3754+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3968,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 3968,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258277.1:c.3805+34A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258334.1:n.3805+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3968,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 3968,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.3:c.3805+34A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:n.3805+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3917,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 3917,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.1:c.3754+34A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:n.3754+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3968,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 3968,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.2:c.3805+34A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:n.3805+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4216,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 4216,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_011526015.1:c.3340+34A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011524317.1:n.3340+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093123"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3968,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 3968,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258278.5:c.3805+34A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258335.1:n.3805+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534810"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3917,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 3917,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_005258279.2:c.3754+34A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005258336.1:n.3754+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3968,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 3968,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_006722479.3:c.3805+34A="
      ],
      "proteinEffect": {
        "hgvs": "XP_006722542.1:n.3805+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3968,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 3968,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025784.1:c.3805+34A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881273.1:n.3805+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3968,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 3968,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025785.1:c.3805+34A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881274.1:n.3805+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576073"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3917,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 3917,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025786.1:c.3754+34A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881275.1:n.3754+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3917,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 3917,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "XM_017025787.1:c.3754+34A="
      ],
      "proteinEffect": {
        "hgvs": "XP_016881276.1:n.3754+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS576075"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3917,
          "endIntronDirection": "+",
          "endIntronOffset": 34,
          "referenceAllele": "A",
          "start": 3917,
          "startIntronDirection": "+",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007897",
      "geneNCBI_id": 4864,
      "geneSymbol": "NPC1",
      "hgvs": [
        "NM_000271.5:c.3754+34A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000262.2:n.3754+34A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662377",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269228.10:c.3754+34A="
          },
          "RefSeq": {
            "hgvs": "NM_000271.5:c.3754+34A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269228.4:n.3754+34A="
          },
          "RefSeq": {
            "hgvs": "NP_000262.2:n.3754+34A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}