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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.[Arg74del;Arg76_Asp83delinsSerGlnSerSerAlaHisThr;Pro85_Ser88delinsArg;Phe90_Ala93delinsProProGlnGln;Asp95_Gln102delinsLeuArgLeuArgPro]
CA8814812
NM_001079803.3:c.218dup