ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.177346G>A
CA125857
HBA1
c.364G>A (p.Val122Met)
c.268G>A (p.Val90Met)
n.500G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
16
g.177346G=
CA2200883278
HBA1
c.364G= (p.Val122=)
c.268G= (p.Val90=)
n.500G=
dbSNP
Number of alleles fetched
Previous
Next