ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.50210385C>T
CA406945610
MYH14
c.20C>T (p.Ser7Leu)
c.-2149C>T (n.-2149C>T)
c.140C>T (p.Ser47Leu)
dbSNP
gnomAD v2
gnomAD v4
19
g.50210385C>A
CA252130
MYH14
c.20C>A (p.Ser7Ter)
c.-2149C>A (n.-2149C>A)
c.140C>A (p.Ser47Ter)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
Previous
Next