Canonical Allele Identifier: PA2825442310
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1993557
ClinVar RCV Id: RCV002814630
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Val388del
CA8815185
NM_001079804.3:c.1163_1165del