ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.154928677G>A
CA255020
F8
c.5113C>T (p.Gln1705Ter)
c.5008C>T (p.Gln1670Ter)
ClinVar
dbSNP
X
g.154928677G>C
CA414913877
F8
c.5113C>G (p.Gln1705Glu)
c.5008C>G (p.Gln1670Glu)
dbSNP
gnomAD v2
gnomAD v4
Number of alleles fetched
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