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Gene:

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000418986.1:p.Glu72_Asn177del
ENST00000497488.1:c.212dup

ENST00000497488.1:c.[212dup;214G>A]

ENST00000497488.1:c.214G>T