ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
20
g.63472462A>T
CA409636356
KCNQ2
c.2T>A (p.Met1Lys)
n.128T>A
ClinVar
dbSNP
gnomAD v4
20
g.63472462A>G
CA342499
KCNQ2
c.2T>C (p.Met1Thr)
n.128T>C
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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