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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.[Ser523_Cys533delinsProThrSerSerGlyAlaLeuArgThrAlaAla;Asn535_Pro541delinsThrMetSerTrpArgThrHis;Tyr543_Pro545delinsThrCysLeu;Val547_Val548delinsTrpLeu;Thr551_Leu552delinsProSer]
CA16041894
NM_000152.5:c.1567del