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Gene:

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000423065.1:p.Phe247del
ENST00000502418.1:n.740_742del

ENST00000502418.1:n.[740_742del;744T>A]

ENST00000502418.1:n.[740_742del;744T>C]

ENST00000502418.1:n.[740_742del;744T>G]

ENST00000502418.1:n.[740_742del;744T=]