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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000460543.2:p.[Glu537_Pro541delinsGlyTrpArgThrHis;Tyr543_Pro545delinsThrCysLeu;Val547_Val548delinsTrpLeu;Thr551_Gln563delinsProSerArgArgProProSerValProProAlaThrSer;Leu565_Ser566delinsSerPro]
CA8815391
ENST00000570803.6:c.1610del