Canonical Allele Identifier: PA2825441835
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2078644
ClinVar RCV Id: RCV002993879

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Ser272Arg
CA401363547
NM_001079804.3:c.814A>C
CA401363556
NM_001079804.3:c.816C>A
CA401363558
NM_001079804.3:c.816C>G