ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.115768346T>C
CA133700
CASQ2
c.-81A>G (n.-81A>G)
c.196A>G (p.Thr66Ala)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.115768346T=
CA1140009144
CASQ2
c.-81A= (n.-81A=)
c.196A= (p.Thr66=)
dbSNP
Number of alleles fetched
Previous
Next