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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000305692.3:p.[Leu398_Gln401delinsArgThrSerSerGlyThrThr;Asn403_Arg411delinsThrThrTrpThrProGlyGlyThrSer;Asp413_Phe414delinsSer;Phe416_Asp419delinsArgMetAlaSer;Phe421_Phe424delinsThrSerArg;Ala426_Met427delinsTrp]
CA16041891
ENST00000302262.8:c.1193del