Canonical Allele Identifier: PA2825463851
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2139403
ClinVar RCV Id: RCV003070816
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Ser88Arg
CA401360559
NM_001079804.3:c.262A>C
CA401360565
NM_001079804.3:c.264C>A
CA401360566
NM_001079804.3:c.264C>G