ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.5226975C>T
CA125261
HBB
c.47G>A (p.Trp16Ter)
n.98G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
11
g.5226975C=
CA1949570710
HBB
c.47G= (p.Trp16=)
n.98G=
dbSNP
11
g.5226975C>G
CA379274885
HBB
c.47G>C (p.Trp16Ser)
n.98G>C
dbSNP
Number of alleles fetched
Previous
Next