Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23568949A>GCA252503NPC1c.337T>C (p.Cys113Arg)
n.251T>C
c.-129T>C (n.-129T>C)
 ClinVar dbSNP
18g.23568949A=CA2290180057NPC1c.337T= (p.Cys113=)
n.251T=
c.-129T= (n.-129T=)
 dbSNP

Number of alleles fetched