ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.44260716C>T
CA127402
SLC4A1
c.268G>A (p.Glu90Lys)
n.202G>A
n.407G>A
c.73G>A (p.Glu25Lys)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
17
g.44260716C=
CA2261311020
SLC4A1
c.268G= (p.Glu90=)
n.202G=
n.407G=
c.73G= (p.Glu25=)
dbSNP
Number of alleles fetched
Previous
Next