Canonical Allele Identifier: PA2825442449
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 598161
ClinVar RCV Id: RCV000734494

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Asp419_Gln429del
CA913191006
NM_001079804.3:c.1257_1289del