ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.94030427C>G
CA341285654
ABCA4
c.4352+1G>C (n.4352+1G>C)
c.728+1G>C (n.728+1G>C)
ClinVar
dbSNP
1
g.94030427C>T
CA957648
ABCA4
c.4352+1G>A (n.4352+1G>A)
c.728+1G>A (n.728+1G>A)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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