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
ENSP00000458306.1:p.[Leu195_Thr197delinsTrpArg;His199_His201delinsArgMet;Arg203Thr;Pro205_Ser206delinsGlyHisArg;Leu208delinsHisSer]
CA2965194593
ENST00000577106.5:c.582del
CA2965194632
ENST00000577106.5:c.584del