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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000374665.3:p.[Glu530_Cys533delinsAla;Asn535_Pro541delinsThrMetSerTrpArgThrHis;Tyr543_Pro545delinsThrCysLeu;Val547_Val548delinsTrpLeu;Thr551_His562delinsProSerArgArgProProSerValProProAlaThr]
CA2640288896
ENST00000390015.7:c.1589_1598del