ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.14130912G>A
CA024638
TMEM43
c.*283G>A (n.*283G>A)
c.253G>A (p.Glu85Lys)
c.148G>A (p.Glu50Lys)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
COSMIC
3
g.14130912G=
CA1346968617
TMEM43
c.*283G= (n.*283G=)
c.253G= (p.Glu85=)
c.148G= (p.Glu50=)
dbSNP
Number of alleles fetched
Previous
Next