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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005257251.1:p.[Tyr543_Pro545delinsThrCysLeu;Val547_Val548delinsTrpLeu;Thr551_Gln563delinsProSerArgArgProProSerValProProAlaThrSer;Leu565del;Thr567Pro;Tyr569_His572delinsThrThrThrCys]
CA2277814225
XM_005257194.4:c.1626del