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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000458306.2:p.[Leu12_Cys16delinsArgProSer;Leu18_Val19delinsPro;Leu21_Ala25delinsCysProTrpGlnPro;Leu27delinsHisSerTrp;His29_Val38delinsThrSerTyrSerMetIleSerCysTrpPhe;Arg40del;Leu42Ser]
CA8814762
ENST00000577106.6:c.35_38del