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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.[Val351_Trp367delinsCysSerSerThrTrpThrLeuTrpAspThrArgSerCysArgHisThr;Leu369_Leu373delinsAlaTrpAlaSerThr;Arg375_Trp376delinsAlaAla;Tyr378_Ser380delinsAlaThrProPro]
CA274024
NM_000152.5:c.1051del