ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.44280827G>T
CA1640158
SLC3A1
c.542G>T (p.Arg181Leu)
c.*553G>T (n.*553G>T)
dbSNP
ExAC
gnomAD v2
gnomAD v4
2
g.44280827G>A
CA127833
SLC3A1
c.542G>A (p.Arg181Gln)
c.*553G>A (n.*553G>A)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
Previous
Next