ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.157770468C>T
CA1919082
ACVR1
c.690G>A (p.Glu230=)
n.707G>A
n.898G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
2
g.157770468C>G
CA349191505
ACVR1
c.690G>C (p.Glu230Asp)
n.707G>C
n.898G>C
dbSNP
Number of alleles fetched
Previous
Next