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
ENSP00000460543.2:p.[Thr153del;Thr155_Thr156delinsProVal;Thr158_Phe160delinsProPro;Lys162_Leu167delinsSerSerPro;Leu169_Glu174del;Glu176_Thr182delinsSer]
CA2573154927
ENST00000570803.6:c.456_457dup