ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
7
g.94417733G>T
CA368222785
COL1A2
c.1873G>T (p.Gly625Cys)
n.210G>T
n.270G>T
c.1867G>T (p.Gly623Cys)
ClinVar
dbSNP
gnomAD v4
7
g.94417733G>A
CA260345
COL1A2
c.1873G>A (p.Gly625Ser)
n.210G>A
n.270G>A
c.1867G>A (p.Gly623Ser)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
Previous
Next