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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.[Leu248_Leu252delinsCysProProArgCys;Ser254_Tyr256delinsArgSer;Thr258_Leu260delinsSerGln;Glu262_Leu264del;Leu267_Leu269del;Trp273_Thr277delinsValPro]
CA658795236
ENST00000572080.2:c.742del