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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.[Ser20del;Ala22_Leu27delinsGlyAsnArgCysThrPro;His29_Leu32delinsAla;Asp34_Val38del;Arg40_Ser46delinsThr;Val48del]
CA913014071
NM_001079804.3:c.54_55del