ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.47346297C>A
CA009672
MYBPC3
c.1000G>T (p.Glu334Ter)
c.982G>T (p.Glu328Ter)
ClinVar
dbSNP
gnomAD v4
11
g.47346297C>T
CA009667
MYBPC3
c.1000G>A (p.Glu334Lys)
c.982G>A (p.Glu328Lys)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
COSMIC
Number of alleles fetched
Previous
Next