ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.48520779C>T
CA011866
FBN1
c.1027G>A (p.Gly343Arg)
c.636+16932G>A (n.636+16932G>A)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
15
g.48520779C=
CA2175537740
FBN1
c.1027G= (p.Gly343=)
c.636+16932G= (n.636+16932G=)
dbSNP
Number of alleles fetched
Previous
Next