ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.147758578G>C
CA342395181
GJA5
c.661C>G (p.Leu221Val)
n.434-18983G>C
n.744-18983G>C
dbSNP
1
g.147758578G>T
CA128544
GJA5
c.661C>A (p.Leu221Ile)
n.434-18983G>T
n.744-18983G>T
ClinVar
dbSNP
Number of alleles fetched
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