{{Rsnum
|rsid=120074132
|Chromosome=18
|Orientation=minus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=NPC1
|position=23539393
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NPC1
}}{{omim
|id=607623
|rsnum=120074132
|variant=0011
}}{{ClinVar
|rsid=120074132
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=21119357
|CHROM=18
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050060000000000002110100
|GENEINFO=NPC1:4864
|GENE_NAME=NPC1
|GENE_ID=4864
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000018.9:g.21119357C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607623.0011
|CLNSIG=5
|CLNCUI=CN032419
|CLNDBN=Niemann-Pick disease type C1
|Disease=Niemann-Pick disease type C1
|CLNACC=RCV000003102.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1296:C3179455:257220:646:66751000
}}