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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000459972.2:p.[Cys127_Phe129delinsLeuLeu;Pro131_Tyr133delinsThrGlnLeu;Ser135_Lys137delinsGln;Glu139_Ser144delinsGlnAlaGlyGluPro;Met146_Thr151delinsLeu;Thr153_Thr156del]
CA658795227
ENST00000572080.2:c.379_380del