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.[Ala150_Thr156delinsGlyHisProAspProTyrHis;Thr158_Phe160delinsHisLeuLeu;Lys162_Leu169delinsGlnGlyHisPro;Val171_Leu179delinsProAlaAlaGlyArgAspAspGlyAsp]
CA658824776
NM_000152.5:c.448dup