ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.6019448C>T
CA114147
VWF
c.3970G>A (p.Gly1324Ser)
n.421-25514G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
12
g.6019448C=
CA2013872985
VWF
c.3970G= (p.Gly1324=)
n.421-25514G=
dbSNP
Number of alleles fetched
Previous
Next