ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.100408456C>A
CA121300
PCDH19
c.142G>T (p.Glu48Ter)
ClinVar
dbSNP
X
g.100408456C>T
CA414011287
PCDH19
c.142G>A (p.Glu48Lys)
dbSNP
gnomAD v2
Showing alleles 1 - 2 from query results
Previous
Next