Canonical Allele Identifier: PA2825461756
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2860705
ClinVar RCV Id: RCV003609078

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Trp516Arg
CA401367152
NM_001079803.3:c.1546T>A
CA401367153
NM_001079803.3:c.1546T>C