ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.48792376G>A
CA412870656
GATA1
c.403G>A (p.Asp135Asn)
c.652G>A (p.Asp218Asn)
ClinVar
dbSNP
X
g.48792376G>T
CA121069
GATA1
c.403G>T (p.Asp135Tyr)
c.652G>T (p.Asp218Tyr)
ClinVar
dbSNP
Number of alleles fetched
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