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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.[Leu152_Thr156delinsProAsp;Thr158_Phe160delinsTyrHis;Lys162_Ile164delinsHis;Thr166del;Arg168_Asn177delinsProGlnGlyHisProAspProAlaAlaGly;Leu179_Phe181delinsAspAspGlyAsp]
CA294887290
ENST00000570803.6:c.454dup