ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48515434C>T
CA012140
FBN1
c.1421G>A (p.Cys474Tyr)
n.95G>A
c.636+22277G>A (n.636+22277G>A)
ClinVar
dbSNP
15
g.48515434C>A
CA392343760
FBN1
c.1421G>T (p.Cys474Phe)
n.95G>T
c.636+22277G>T (n.636+22277G>T)
ClinVar
dbSNP
Number of alleles fetched
Previous
Next