Canonical Allele Identifier: PA2825442256
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2020259
ClinVar RCV Id: RCV002852433
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Ser380del
CA2580612671
NM_001079804.3:c.1138_1140del