Canonical Allele Identifier: PA2825462913
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 552527
ClinVar RCV Id: RCV000667808
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Trp772Arg
CA401324918
NM_001079803.3:c.2314T>C
CA401324920
NM_001079803.3:c.2314T>A