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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.[Glu521_Pro522delinsGlyThr;Asn524_Arg527delinsLeuProThrSerSer;Ser529_Cys533delinsAlaLeuArgThrAlaAla;Asn535_Pro541delinsThrMetSerTrpArgThrHis;Tyr543_Pro545delinsThrCysLeu;Val547_Val548delinsTrpLeu]
CA2499225013
ENST00000570803.6:c.1557_1561dup