Canonical Allele Identifier: PA2825463960
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2689095
ClinVar RCV Id: RCV003487845
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Pro130Arg
CA401361014
NM_001079804.3:c.389C>G