ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
9
g.77205394T>A
CA253246
VPS13A
c.269T>A (p.Ile90Lys)
n.621T>A
ClinVar
dbSNP
9
g.77205394T>C
CA5091286
VPS13A
c.269T>C (p.Ile90Thr)
n.621T>C
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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