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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.[Met146delinsGlyLeuHis;Tyr148_Thr156delinsHisProAspProTyrHisProHisLeuLeu;Thr158_Phe160delinsGlnGlyHis;Lys162del;Ile164_Leu167delinsProAlaAlaGly;Leu169Asp;Val171_Thr175delinsGlyAsp]
CA913014082
ENST00000302262.8:c.436_437del