Canonical Allele Identifier: PA2825065542
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 948944
ClinVar RCV Id: RCV001220302 RCV003145408
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000143.2:p.Ser379Phe
CA294892234
NM_000152.5:c.1136C>T