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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.[Val387_Val388delinsGlyGlyGly;Asn390_Phe396delinsHisAspGlnGlyProLeuPro;Leu398_Asp399delinsGlyArgPro;Gln401_Asp404delinsGluArgProGly;Asp406_Thr415delinsHisGlyLeuProGluGlyLeuHisVal]
CA658655614
ENST00000570803.6:c.1157dup