ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.189564186C>T
CA117529
SLC40A1
c.800G>A (p.Gly267Asp)
c.680G>A (p.Gly227Asp)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
2
g.189564186C>A
CA349988392
SLC40A1
c.800G>T (p.Gly267Val)
c.680G>T (p.Gly227Val)
dbSNP
Number of alleles fetched
Previous
Next