ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.154928623C>A
CA414913645
F8
c.5167G>T (p.Glu1723Ter)
c.5062G>T (p.Glu1688Ter)
dbSNP
X
g.154928623C>T
CA255040
F8
c.5167G>A (p.Glu1723Lys)
c.5062G>A (p.Glu1688Lys)
ClinVar
dbSNP
COSMIC
COSMIC
Number of alleles fetched
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