ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.48965836G>A
CA211321
FTL
c.169G>A (p.Glu57Lys)
c.679G>A (p.Glu227Lys)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
19
g.48965836G=
CA2340161488
FTL
c.169G= (p.Glu57=)
c.679G= (p.Glu227=)
dbSNP
Number of alleles fetched
Previous
Next