Canonical Allele Identifier: PA2825442711
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2581623
ClinVar RCV Id: RCV003332028

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Phe487Leu
CA401366846
NM_001079804.3:c.1459T>C
CA401366854
NM_001079804.3:c.1461C>A
CA401366857
NM_001079804.3:c.1461C>G