{{Rsnum
|rsid=120074134
|Chromosome=18
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=NPC1
|position=23556436
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NPC1
}}{{omim
|id=607623
|rsnum=120074134
|variant=0014
}}{{ClinVar
|rsid=120074134
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=21136400
|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.21136400A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=607623.0014
|CLNSIG=5
|CLNCUI=CN032419
|CLNDBN=Niemann-Pick disease type C1
|Disease=Niemann-Pick disease type C1
|CLNACC=RCV000003104.1
|Tags=RV;PM;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1296:C3179455:257220:646:66751000
}}