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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.[Glu174Arg;Glu176_Thr182delinsAlaSerThrSerArgSerLys;Lys184_Pro186delinsGlnLeuThrGly;Asn188Thr;Arg190_Val193delinsCysProTrpArg;Leu195_Val200delinsArgMetSerThrAlaGly;Ser202del;Ala204_Pro205del]
CA2739265768
NM_001079803.3:c.520_526del