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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000459972.2:p.[Ala14_Leu18delinsLeuArgProArg;Ser20del;Ala22_Leu27delinsGlyAsnArgCysThrPro;His29_Leu32delinsAla;Asp34_Val38delinsProThr;Arg40_Gly44del]
CA8814766
ENST00000572080.2:c.40_44del