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Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.[Asn314_Asn316delinsThr;Asp319_Pro324delinsProTrpMetTrpSerCys;Pro326Arg;Ser329_Gly334delinsProLeuAlaGlyGlyArgGlnVal;Ile336_Leu343delinsSerTrpMetSerThrSerSerTrp]
CA2640280348
NM_000152.5:c.941del