Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23561362delCA16041921NPC1c.629del (p.Ser210Ter)
n.543del
c.164del (p.Ser55Ter)
 ClinVar dbSNP
18g.23561362G=CA3229117680NPC1c.629C= (p.Ser210=)
n.543C=
c.164C= (p.Ser55=)
 dbSNP

Number of alleles fetched