ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.157774114C>T
CA128036
ACVR1
c.617G>A (p.Arg206His)
n.634G>A
ClinVar
dbSNP
COSMIC
2
g.157774114C>G
CA1919112
ACVR1
c.617G>C (p.Arg206Pro)
n.634G>C
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
Previous
Next