ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.189565568C>T
CA430502844
SLC40A1
c.546G>A (p.Gln182=)
c.426G>A (p.Gln142=)
ClinVar
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.189565568C>A
CA117521
SLC40A1
c.546G>T (p.Gln182His)
c.426G>T (p.Gln142His)
ClinVar
dbSNP
Number of alleles fetched
Previous
Next