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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000458306.2:p.[Trp376Cys;Tyr378_Val388delinsLeuLeuLeuHisArgTyrHisProProGlyGlyGly;Asn390_Phe396delinsHisAspGlnGlyProLeuPro;Leu398_Leu405delinsGlyArgProValGluArgProGly]
CA1139532165
ENST00000577106.6:c.1127_1128insC