Canonical Allele Identifier: PA913191901
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 594278
ClinVar RCV Id: RCV000729535

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Pro39Leu
CA401360282
NM_000152.5:c.116C>T