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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.[Phe414delinsCysSer;Phe416_Asp419delinsArgMetAlaSer;Phe421_Phe424delinsThrSerArg;Ala426_Gly434delinsTrpCysArgSerCysThrArgAlaAla;Arg436_Pro444delinsAlaThr]
CA913014094
ENST00000570803.6:c.1241_1244del