Canonical Allele Identifier: PA1139671453
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 853765
ClinVar RCV Id: RCV001058639 RCV003145315
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001073272.1:p.Ser523Cys
CA401367217
NM_001079804.3:c.1568C>G