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.[Ser251Leu;Ser254Leu]
CA2573102892
ENST00000570803.6:c.[752C>T;761C>T]
CA2695227069
ENST00000570803.6:c.752_761delinsTGCTGCCCTT