ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.70175818G>C
CA302046
KCNJ2
c.779G>C (p.Arg260Pro)
ClinVar
dbSNP
17
g.70175818G>A
CA400862041
KCNJ2
c.779G>A (p.Arg260His)
ClinVar
dbSNP
gnomAD v2
gnomAD v4
Showing alleles 1 - 2 from query results
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