Canonical Allele Identifier: PA2825461373
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 284497
ClinVar RCV Id: RCV000852731 RCV000346911 RCV000528796 RCV001533532 RCV002379127
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Gln429Arg
CA8815250
NM_001079803.3:c.1286A>G