ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.46125812G>A
CA236432
COL6A2
c.1997G>A (p.Ser666Asn)
c.668G>A (p.Ser223Asn)
n.2074G>A
n.2081G>A
ClinVar
dbSNP
21
g.46125812G=
CA2392507580
COL6A2
c.1997G= (p.Ser666=)
c.668G= (p.Ser223=)
n.2074G=
n.2081G=
dbSNP
Number of alleles fetched
Previous
Next