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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.[Leu431_Gln433delinsProAlaPro;Gly435_Ser449delinsArgProAlaLeuHisAspAspArgGlySerCysHisGlnGlnLeu;Ala452_Glu460delinsCysArgGluLeuGlnAlaLeuArgArg]
CA913014095
ENST00000572080.2:c.1291dup