ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
15
g.88859008T>A
CA492287681
ACAN
c.6423T>A (p.Leu2141=)
c.6366T>A (p.Leu2122=)
dbSNP
15
g.88859008T>C
CA7720399
ACAN
c.6423T>C (p.Leu2141=)
c.6366T>C (p.Leu2122=)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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