×
SERVICES INTERRUPTION:
2026-08-07T10:00:00-0500
—
2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability UI services may experience intermittent service interruptions during this period.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.219060185C>T
CA119973
IHH
c.283G>A (p.Glu95Lys)
ClinVar
dbSNP
2
g.219060185C=
CA1329042584
IHH
c.283G= (p.Glu95=)
dbSNP
Number of alleles fetched
Previous
Next