×
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
20
g.6094937A>G
CA357194
FERMT1
c.1139+2T>C (n.1139+2T>C)
n.1601+2T>C
c.368+2T>C (n.368+2T>C)
ClinVar
dbSNP
gnomAD v4
20
g.6094937A=
CA2347801038
FERMT1
c.1139+2T= (n.1139+2T=)
n.1601+2T=
c.368+2T= (n.368+2T=)
dbSNP
Number of alleles fetched
Previous
Next