Canonical Allele Identifier: PA2825461761
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 189124
ClinVar RCV Id: RCV000169538 RCV000726790
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073271.1:p.Met519Thr
CA274402
NM_001079803.3:c.1556T>C