ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.70175685A>C
CA254600
KCNJ2
c.646A>C (p.Asn216His)
ClinVar
dbSNP
17
g.70175685A>T
CA400861448
KCNJ2
c.646A>T (p.Asn216Tyr)
ClinVar
dbSNP
Number of alleles fetched
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