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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.[Leu769_Thr771del;Tyr773_Glu781del;Leu783His;Ser785_Pro793delinsThrThrCysArg;Glu795_Ile798delinsCysGln]
CA2695227087
NM_001079804.3:c.2304del