RHAG > RHAG*-03
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Phenotypes
Duclos
Ola
DSLK
Kg
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
---|---|---|---|---|---|---|---|
c.490A>C | p.Lys164Gln | Exon 3 | chr6:49,585,783 | chr6:49,618,070 |
Sequence
None
Publication
None