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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.[Ile257_Leu264delinsTyrHisArgProArgArgAlaProGln;Leu267_Leu283delinsAspAlaGlnHisGlnLeuAspGlnAspHisProValGluProGlyProCys;Pro285_Thr286delinsHis]
CA502402648
ENST00000390015.7:c.768dup