ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.189565370C>A
CA2024169
SLC40A1
c.744G>T (p.Gln248His)
c.624G>T (p.Gln208His)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
2
g.189565370C>T
CA430502413
SLC40A1
c.744G>A (p.Gln248=)
c.624G>A (p.Gln208=)
dbSNP
Number of alleles fetched
Previous
Next