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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000460543.1:p.[His199_His201delinsMet;Arg203Thr;Pro205_Tyr209delinsGlyHisArgProHis;Val211_Phe213delinsThrAlaTrp;Glu215_Glu216delinsSer;Phe218_Val222del;Arg224_Asp227delinsSerProSer]
CA2965194761
ENST00000570803.5:c.594del