ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48488233C>A
CA392327733
FBN1
c.3217G>T (p.Glu1073Ter)
n.1891G>T
c.637-13583G>T (n.637-13583G>T)
ClinVar
dbSNP
15
g.48488233C>T
CA013900
FBN1
c.3217G>A (p.Glu1073Lys)
n.1891G>A
c.637-13583G>A (n.637-13583G>A)
ClinVar
dbSNP
Number of alleles fetched
Previous
Next