This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: GAA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.[Ala897Glu;Leu899_Leu907delinsAspCysProGlyArgGlyHis;Val909del;Thr911Pro;Pro913_Val916delinsGlyPro;Ser918_Val921delinsGlnArgCys;Val923_Ser929delinsCysLeuGlnLeuHisLeuGln;Asp931_Thr932delinsArgHis]
CA2640291005
NM_000152.5:c.2690_2706del