omia.variant:602

Genomic description: g.[7093782_7093793del;7095476_7095477insCTGGGCACC]

Coding DNA description: c.[839_850del;2021_2022insCTGGGCACC]

Protein description: p.[(P280_T283del;L674_L675insWAP)]

Gene: PMEL

Phenes where this variant occurs: