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ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
18
g.60371454G>A
CA301530009
MC4R
c.896C>T (p.Pro299Leu)
dbSNP
18
g.60371454G>T
CA214149
MC4R
c.896C>A (p.Pro299His)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
18
g.60371454G=
CA2307358962
MC4R
c.896C= (p.Pro299=)
dbSNP
Number of alleles fetched
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