ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
7
g.44541392T>C
CA12537845
NPC1L1
n.260A>G
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
7
g.44541392T>G
CA2682631076
NPC1L1
n.260A>C
dbSNP
gnomAD v4
7
g.44541392T=
CA1703813887
NPC1L1
n.260A=
dbSNP
Number of alleles fetched
Previous
Next