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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.[Val388Gly;Asn390_Phe396delinsHisAspGlnGlyProLeuPro;Leu398_Asp399delinsGlyArgPro;Gln401_Asp404delinsGluArgProGly;Asp406_Lys418delinsHisGlyLeuProGluGlyLeuHisValGlnGln]
CA913014093
NM_000152.5:c.1163_1164del