Canonical Allele Identifier: PA2825065407
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1716223
ClinVar RCV Id: RCV002303301
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Val320Arg
CA2580095299
NM_000152.5:c.958_959delinsAG