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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000458306.2:p.[Asn314_Asn316delinsLys;Asp319_Pro324delinsProTrpMetTrpSerCys;Pro326Arg;Ser329_Gly344delinsProLeuAlaGlyGlyArgGlnValGlySerTrpMetSerThrSerSerTrp]
CA2640280354
ENST00000577106.6:c.942del