ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.94378547C>T
CA127650
SERPINA1
c.1159G>A (p.Glu387Lys)
c.*458G>A (n.*458G>A)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
14
g.94378547C>A
CA390847611
SERPINA1
c.1159G>T (p.Glu387Ter)
c.*458G>T (n.*458G>T)
dbSNP
Number of alleles fetched
Previous
Next