Canonical Allele Identifier: PA2825065048
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1990791
ClinVar RCV Id: RCV002771440
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Thr149Lys
CA401361436
NM_000152.5:c.446C>A