ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48610768G>A
CA013747
FBN1
c.306C>T (p.Cys102=)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
15
g.48610768G>T
CA16607112
FBN1
c.306C>A (p.Cys102Ter)
ClinVar
dbSNP
Number of alleles fetched
Previous
Next