Canonical Allele Identifier: PA2825065461
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 2153114
ClinVar RCV Id: RCV003077445
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Pro345Ser
CA401364661
NM_000152.5:c.1033C>T