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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.38451846T>C
CA023960
RYR1
c.1205T>C (p.Met402Thr)
c.1202T>C (p.Met401Thr)
n.1288T>C
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
19
g.38451846T=
CA2335029566
RYR1
c.1205T= (p.Met402=)
c.1202T= (p.Met401=)
n.1288T=
dbSNP
Number of alleles fetched
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