ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.8745598A>C
CA69870263
CAV3
c.187A>C (p.Thr63Pro)
n.155+11608A>C
dbSNP
3
g.8745598A>G
CA351663255
CAV3
c.187A>G (p.Thr63Ala)
n.155+11608A>G
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
Previous
Next