Canonical Allele Identifier: PA2825065876
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2165820
ClinVar RCV Id: RCV003084566

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Glu537Asp
CA401367314
NM_000152.5:c.1611G>C
CA401367315
NM_000152.5:c.1611G>T