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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000459972.2:p.[Cys8_Leu12delinsProAlaProGlyArg;Ala14_Ala17delinsArgProArgVal;Val19_Ala22delinsGlyAsnArgCys;Ala24_Leu27delinsPro;His29_Leu32delinsAla;Asp34_Val38delinsProThrPro]
CA658795221
ENST00000572080.2:c.18_25del