ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48488445C>A
CA392328137
FBN1
c.3131G>T (p.Cys1044Phe)
n.1805G>T
c.637-13795G>T (n.637-13795G>T)
ClinVar
dbSNP
15
g.48488445C>T
CA013806
FBN1
c.3131G>A (p.Cys1044Tyr)
n.1805G>A
c.637-13795G>A (n.637-13795G>A)
ClinVar
dbSNP
COSMIC
Number of alleles fetched
Previous
Next