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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000460543.2:p.[Leu369Pro;Phe371_Trp376delinsLeuProProValProLeu;Tyr378_Phe396delinsLeuLeuLeuHisArgTyrHisProProGlyGlyGlyGluHisAspGlnGlyProLeu;Leu398Pro]
CA2580095322
ENST00000570803.6:c.1105dup