ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.48791329G>A
CA412867311
GATA1
c.-29-515G>A (n.-29-515G>A)
c.220G>A (p.Val74Ile)
dbSNP
COSMIC
X
g.48791329G>C
CA345938
GATA1
c.-29-515G>C (n.-29-515G>C)
c.220G>C (p.Val74Leu)
ClinVar
dbSNP
Number of alleles fetched
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